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Forschungsdatenbank PMU-SQQUID

UNIVERSITÄTSKLINIK FÜR KINDER- UND JUGENDHEILKUNDE:

PUBLIKATIONEN | Mitarbeiter/innen

1248 Publikationen

2023

Beiträge in Fachzeitschriften

Dietary restriction in senolysis and prevention and treatment of disease
Aminzadeh-Gohari, S; Kofler, B; Herzog, C
CRIT REV FOOD SCI. 2023;
Übersichtsarbeiten
The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.
Krenn, M; Sener, M; Rath, J; Zulehner, G; Keritam, O; Wagner, M; Laccone, F; Iglseder, S; Marte, S; Baumgartner, M; Eisenkölbl, A; Liechtenstein, C; Rudnik, S; Quasthoff, S; Grinzinger, S; Spenger, J; Wortmann, SB; Löscher, WN; Zimprich, F; Kellersmann, A; Rappold, M; Bernert, G; Freilinger, M; Cetin, H;
J Neurol. 2023; 270(2):909-916
Originalarbeiten (Zeitschrift)
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Loong, L; Tardivo, A; Knaus, A; Hashim, M; Pagnamenta, AT; Alt, K; Böhrer-Rabel, H; Caro-Llopis, A; Cole, T; Distelmaier, F; Edery, P; Ferreira, CR; Jezela-Stanek, A; Kerr, B; Kluger, G; Krawitz, PM; Kuhn, M; Lemke, JR; Lesca, G; Lynch, SA; Martinez, F; Maxton, C; Mierzewska, H; Monfort, S; Nicolai, J; Orellana, C; Pal, DK; Płoski, R; Quarrell, OW; Rosello, M; Rydzanicz, M; Sabir, A; Śmigiel, R; Stegmann, APA; Stewart, H; Stumpel, C; Szczepanik, E; Tzschach, A; Wolfe, L; Taylor, JC; Murakami, Y; Kinoshita, T; Bayat, A; Kini, U;
Genet Med. 2023; 25(1):37-48
Originalarbeiten (Zeitschrift)
TREATMENT OF MITOCHONDRIAL PHENYLALANYL-TRNA-SYNTHETASE DEFICIENCY (FARS2) WITH ORAL PHENYLALANINE.
Oswald, S; Steinbruecker, K; Achleitner, M; Goeschl, E; Bittner, R; Schmidt, W; Tiefenthaler, E; Hammerl, E; Eisl, A; Mayr, D; Mayr, JA; Wortmann, SB;
Neuropediatrics. 2023;
Originalarbeiten (Zeitschrift)
Nicotinamide Riboside for Ataxia Telangiectasia: A Report of an Early Treated Individual.
Steinbruecker, K; Tiefenthaler, E; Schernthaler, EM; Jungwirth, J; Wortmann, SB;
Neuropediatrics. 2023; 54(1):78-81
Fallberichte

2022

Beiträge in Fachzeitschriften

Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined Nonketotic Hyperglycinemia and Lipoate Deficiency.
Arribas-Carreira, L; Dallabona, C; Swanson, MA; Farris, J; Østergaard, E; Tsiakas, K; Hempel, M; Aquaviva-Bourdain, C; Koutsoukos, S; Stence, NV; Magistrati, M; Spector, EB; Kronquist, K; Christensen, M; Karstensen, HG; Feichtinger, RG; Achleitner, MT; Lawrence Merritt, J; Pérez, B; Ugarte, M; Grünewald, S; Riela, AR; Julve, N; Arnoux, JB; Haldar, K; Donnini, C; Santer, R; Lund, AM; Mayr, JA; Rodriguez-Pombo, P; Van Hove, JLK;
Hum Mol Genet. 2022;
Originalarbeiten (Zeitschrift)
A case report: New-onset refractory status epilepticus in a patient with FASTKD2-related mitochondrial disease.
Astner-Rohracher, A; Mauritz, M; Leitinger, M; Rossini, F; Kalss, G; Neuray, C; Retter, E; Wortmann, SB; Achleitner, MT; Mayr, JA; Trinka, E;
Front Neurol. 2022; 13: 1063733
Fallberichte
A pilot study of evaluation of semi-rigid and flexible catheters for less invasive surfactant administration in preterm infants with respiratory distress syndrome-a randomized controlled trial.
Auer-Hackenberg, L; Brandner, J; Hofstätter, E; Stroicz, P; Hager, T; Eichhorn, A; Schütz, S; Feldner, R; Wald, M;
BMC Pediatr. 2022; 22(1): 637
Originalarbeiten (Zeitschrift)
Breath-dependent pressure fluctuations in various constant- and variable-flow neonatal CPAP devices.
Auer-Hackenberg, L; Stroicz, P; Hofstatter, E; Brandner, J; Haselmann, C; Wald, M
Pediatr Pulmonol. 2022; 57(10):2411-2419
Originalarbeiten (Zeitschrift)
A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy.
Bader, I; Freilinger, M; Landauer, F; Waldmüller, S; Mueller-Felber, W; Rauscher, C; Sperl, W; Bittner, RE; Schmidt, WM; Mayr, JA;
Orphanet J Rare Dis. 2022; 17(1): 279
Übersichtsarbeiten
PIGN encephalopathy: Characterizing the epileptology.
Bayat, A; de Valles-Ibáñez, G; Pendziwiat, M; Knaus, A; Alt, K; Biamino, E; Bley, A; Calvert, S; Carney, P; Caro-Llopis, A; Ceulemans, B; Cousin, J; Davis, S; des Portes, V; Edery, P; England, E; Ferreira, C; Freeman, J; Gener, B; Gorce, M; Heron, D; Hildebrand, MS; Jezela-Stanek, A; Jouk, PS; Keren, B; Kloth, K; Kluger, G; Kuhn, M; Lemke, JR; Li, H; Martinez, F; Maxton, C; Mefford, HC; Merla, G; Mierzewska, H; Muir, A; Monfort, S; Nicolai, J; Norman, J; O"Grady, G; Oleksy, B; Orellana, C; Orec, LE; Peinhardt, C; Pronicka, E; Rosello, M; Santos-Simarro, F; Schwaibold, EMC; Stegmann, APA; Stumpel, CT; Szczepanik, E; Terczyńska, I; Thevenon, J; Tzschach, A; Van Bogaert, P; Vittorini, R; Walsh, S; Weckhuysen, S; Weissman, B; Wolfe, L; Reymond, A; De Nittis, P; Poduri, A; Olson, H; Striano, P; Lesca, G; Scheffer, IE; Møller, RS; Sadleir, LG;
Epilepsia. 2022; 63(4): 974-991.
Originalarbeiten (Zeitschrift)
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.
Bölsterli, BK; Boltshauser, E; Palmieri, L; Spenger, J; Brunner-Krainz, M; Distelmaier, F; Freisinger, P; Geis, T; Gropman, AL; Häberle, J; Hentschel, J; Jeandidier, B; Karall, D; Keren, B; Klabunde-Cherwon, A; Konstantopoulou, V; Kottke, R; Lasorsa, FM; Makowski, C; Mignot, C; OGorman Tuura, R; Porcelli, V; Santer, R; Sen, K; Steinbrücker, K; Syrbe, S; Wagner, M; Ziegler, A; Zöggeler, T; Mayr, JA; Prokisch, H; Wortmann, SB;
Nutrients. 2022; 14(17):
Originalarbeiten (Zeitschrift)
Deviating glucose results in an international dual-center study. A root cause investigation.
Cadamuro, J; Bergsten, P; Mörwald, K; Forslund, A; Dahlbom, M; Bergquist, J; Ciba, I; Brunner, SM; Jabbour, J; Weghuber, D;
Biochem Med (Zagreb). 2022; 32(1): 011001
Übersichtsarbeiten
Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation.
Carvalhal, S; Bader, I; Rooimans, MA; Oostra, AB; Balk, JA; Feichtinger, RG; Beichler, C; Speicher, MR; van Hagen, JM; Waisfisz, Q; van Haelst, M; Bruijn, M; Tavares, A; Mayr, JA; Wolthuis, RMF; Oliveira, RA; de Lange, J;
Sci Adv. 2022; 8(3): eabk0114
Originalarbeiten (Zeitschrift)
National Concept for the Treatment of Overweight and Obesity in Childhood and Adolescence from the Austrian Society for Paediatric and Adolescent Medicine and participating medical-scientific Professional Societies, Professional Associations and other Organisations Version of 6th December 2021
Cavini, AM; Ehringer-Schetitska, D; Furthner, D; Greber-Platzer, S; Kamper, A; Metzger, R; Morwald, K; Scholl-Burgi, S; Van Egmond-Frohlich, A; Weghuber, D; Widhalm, K; Wojnarowski, C
PADIATR PADOL. 2022; 57(SUPPL 1): 2-32.
Übersichtsarbeiten
Electroclinical Features and Long-term Seizure Outcome in Patients With Eyelid Myoclonia With Absences.
Cerulli Irelli, E; Cocchi, E; Ramantani, G; Caraballo, RH; Giuliano, L; Yilmaz, T; Morano, A; Panagiotakaki, E; Operto, FF; Gonzalez Giraldez, B; Silvennoinen, K; Casciato, S; Comajuan, M; Balestrini, S; Fortunato, F; Coppola, A; Di Gennaro, G; Labate, A; Sofia, V; Kluger, GJ; Kasteleijn-Nolst Trenité, DGA; Gambardella, A; Baykan, B; Sisodiya, SM; Arzimanoglou, A; Striano, P; Di Bonaventura, C;
Neurology. 2022; 98(18): e1865-e1876.
Originalarbeiten (Zeitschrift)
The spectrum of epilepsy with eyelid myoclonia: delineation of disease subtypes from a large multicenter study.
Cerulli Irelli, E; Cocchi, E; Ramantani, G; Riva, A; Caraballo, RH; Morano, A; Giuliano, L; Yilmaz, T; Panagiotakaki, E; Operto, FF; Giraldez, BG; Balestrini, S; Silvennoinen, K; Casciato, S; Comajuan, M; Fortunato, F; Giallonardo, AT; Gamirova, R; Coppola, A; Di Gennaro, G; Labate, A; Sofia, V; Kluger, GJ; Gambardella, A; Kasteleijn-Nolst Trenite, D; Baykan, B; Sisodiya, SM; Arzimanoglou, A; Striano, P; Di Bonaventura, C;
Epilepsia. 2022;
Originalarbeiten (Zeitschrift)
Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease.
Cordts, I; Semmler, L; Prasuhn, J; Seibt, A; Herebian, D; Navaratnarajah, T; Park, J; Deininger, N; Laugwitz, L; Göricke, SL; Lingor, P; Brüggemann, N; Münchau, A; Synofzik, M; Timmann, D; Mayr, JA; Haack, TB; Distelmaier, F; Deschauer, M;
Mov Disord. 2022; 37(10):2147-2153
Originalarbeiten (Zeitschrift)
Mitochondrial diseases mimicking autoimmune diseases of the CNS and good response to steroids initially.
Della Marina, A; Bertolini, A; Wegener-Panzer, A; Flotats-Bastardas, M; Reinhardt, T; El Naggar, I; Distelmaier, F; Blaschek, A; Schara-Schmidt, U; Brunet, T; Wagner, M; Smirnov, D; Prokisch, H; Wortmann, SB; Rostasy, K;
Eur J Paediatr Neurol. 2022; 41:27-35
Originalarbeiten (Zeitschrift)
Transatlantic Comparison of Pediatric Continuous Glucose Monitoring Use in the Diabetes-Patienten-Verlaufsdokumentation Initiative and Type 1 Diabetes Exchange Quality Improvement Collaborative
DeSalvo, DJ; Lanzinger, S; Noor, N; Steigleder-Schweiger, C; Ebekozien, O; Von Sengbusch, S; Jones, NHY; Laubner, K; Maahs, DM; Holl, RW
DIABETES TECHNOL THE. 2022; 24(12): 920-924.
Kurzberichte/Notes
Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile Epilepsy
Doring, JH; Saffari, A; Bast, T; Brockmann, K; Ehrhardt, L; Fazeli, W; Janzarik, WG; Klabunde-Cherwon, A; Kluger, G; Muhle, H; Pendziwiat, M; Moller, RS; Platzer, K; Santos, JL; Schroter, J; Hoffmann, GF; Kolker, S; Syrbe, S
NEUROL-GENET. 2022; 8(5): e200020
Originalarbeiten (Zeitschrift)
Associations Between Parental Occupational Balance, Subjective Health, and Clinical Characteristics of VLBW Infants.
Dür, M; Röschel, A; Oberleitner-Leeb, C; Herrmanns, V; Pichler-Stachl, E; Mattner, B; Pernter, SD; Wald, M; Urlesberger, B; Kurz, H; Frischer, T; Zwiauer, K; Matter, IS; Berger, A;
Front Pediatr. 2022; 10: 816221
Originalarbeiten (Zeitschrift)
The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies
Epting, D; Decker, E; Ott, E; Eisenberger, T; Bader, I; Bachmann, N; Bergmann, C
HUM MOL GENET. 2022;
Originalarbeiten (Zeitschrift)
A TSHZ3 Frame-Shift Variant Causes Neurodevelopmental and Renal Disorder Consistent with Previously Described Proximal Chromosome 19q13.11 Deletion Syndrome.
Feichtinger, RG; Preisel, M; Steinbrücker, K; Brugger, K; Radda, A; Wortmann, SB; Mayr, JA;
Genes (Basel). 2022; 13(12):
Fallberichte
The Evolution of Reverse Total Shoulder Arthroplasty-From the First Steps to Novel Implant Designs and Surgical Techniques
Frank, JK; Siegert, P; Plachel, F; Heuberer, PR; Huber, S; Schanda, JE
J CLIN MED. 2022; 11(6): 1512
Originalarbeiten (Zeitschrift)
Single Point Insulin Sensitivity Estimator in Pediatric Non-Alcoholic Fatty Liver Disease.
Furthner, D; Anderwald, CH; Bergsten, P; Forslund, A; Kullberg, J; Ahlström, H; Manell, H; Ciba, I; Mangge, H; Maruszczak, K; Koren, P; Schütz, S; Brunner, SM; Schneider, AM; Weghuber, D; Mörwald, K;
Front Endocrinol (Lausanne). 2022; 13: 830012
Originalarbeiten (Zeitschrift)
Nonalcoholic Fatty Liver Disease in Children with Obesity: Narrative Review and Research Gaps.
Furthner, D; Weghuber, D; Dalus, C; Lukas, A; Stundner-Ladenhauf, HN; Mangge, H; Pixner, T;
Horm Res Paediatr. 2022; 95(2):167-176
Übersichtsarbeiten
Weight Development in Children and Adolescents with Obesity During the COVID-19 Pandemic
Galler, A; Robl, M; Prinz, N; Dannemann, A; Gellhaus, I; Kapellen, T; Linke, S; Schauerte, G; Stein, R; Weghuber, D; Weihrauch-Bluher, S; Wiegand, S; Holl, R
DTSCH ARZTEBL INT. 2022; 119(17): 302-303.
Letter
Childhood obesity prevention: what can be achieved?
Gomahr, J; Julian, V; Thivel, D; Maruszczak, K; Schneider, AM; Weghuber, D;
Curr Opin Clin Nutr Metab Care. 2022; 25(3):-231.
Übersichtsarbeiten
Use of foods for special medical purposes (balanced diet) for infants, update 2022 Updated position of the Committee on Nutrition of the Austrian Society for Paediatric and Adolescent Medicine (oGKJ) the Nutrition Committee of the German Society for Paediatric and Adolescent Medicine (DGKJ) and the Nutrition Committee of the Swiss Society of Paediatrics (SGP)
Greber-Platzer, S; Gsollpointner, M; Haiden, N; Hauer, AC; Lanzersdorfer, R; Pietschnig, B; Schneider, AM; Scholl-Burgi, S; Sperl, W; Stenzel, HC; Weghuber, D; Buhrer, C; Ensenauer, R; Jochum, F; Kalhoff, H; Koletzko, B; Korner, A; Lawrenz, B; Mihatsch, W; Posovszky, C; Rudloff, S; Braegger, C; Fischer-Fumeaux, CJ; Lauener, R; Petit, LM
MONATSSCHR KINDERH. 2022;
Originalarbeiten (Zeitschrift)
A Comparison of the Impact of Restrictive Diets on the Gastrointestinal Tract of Mice
Gregor, A; Huber, L; Auernigg-Haselmaier, S; Sternberg, F; Billerhart, M; Dunkel, A; Somoza, V; Ogris, M; Kofler, B; Longo, VD; Konig, J; Duszka, K
NUTRIENTS. 2022; 14(15): 3120
Originalarbeiten (Zeitschrift)
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.
Grünert, SC; Derks, TGJ; Adrian, K; Al-Thihli, K; Ballhausen, D; Bidiuk, J; Bordugo, A; Boyer, M; Bratkovic, D; Brunner-Krainz, M; Burlina, A; Chakrapani, A; Corpeleijn, W; Cozens, A; Dawson, C; Dhamko, H; Milosevic, MD; Eiroa, H; Finezilber, Y; Moura de Souza, CF; Garcia-Jiménez, MC; Gasperini, S; Haas, D; Häberle, J; Halligan, R; Fung, LH; Hörbe-Blindt, A; Horka, LM; Huemer, M; Uçar, SK; Kecman, B; Kilavuz, S; Kriván, G; Lindner, M; Lüsebrink, N; Makrilkakis, K; Mei-Kwun Kwok, A; Maier, EM; Maiorana, A; McCandless, SE; Mitchell, JJ; Mizumoto, H; Mundy, H; Ochoa, C; Pierce, K; Fraile, PQ; Regier, D; Rossi, A; Santer, R; Schuman, HC; Sobieraj, P; Spenger, J; Spiegel, R; Stepien, KM; Tal, G; Tanšek, MZ; Torkar, AD; Tchan, M; Thyagu, S; Schrier Vergano, SA; Vucko, E; Weinhold, N; Zsidegh, P; Wortmann, SB;
Genet Med. 2022; 24(8): 1781-1788.
Originalarbeiten (Zeitschrift)
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Guimier, A; Achleitner, MT; Moreau de Bellaing, A; Edwards, M; de Pontual, L; Mittal, K; Dunn, KE; Grove, ME; Tysoe, CJ; Dimartino, C; Cameron, J; Kanthi, A; Shukla, A; van den Broek, F; Chatterjee, D; Alston, CL; Knowles, CV; Brett, L; Till, JA; Homfray, T; French, P; Spentzou, G; Elserafy, NA; Lichkus, KS; Sankaran, BP; Kennedy, HL; George, PM; Kidd, A; Wortmann, SB; Fisk, DG; Koopmann, TT; Rafiq, MA; Merker, JD; Parikh, S; Ahimaz, P; Weintraub, RG; Ma, AS; Turner, C; Ellaway, CJ; Phillips, LK; Thorburn, DR; Chung, WK; Kana, SL; Faye-Petersen, OM; Thompson, ML; Janin, A; McLeod, K; McGowan, R; McFarland, R; Girisha, KM; Morris-Rosendahl, DJ; Hurst, ACE; Turner, CLS; Hamilton, RM; Taylor, RW; Bajolle, F; Gordon, CT; Amiel, J; Mayr, JA; Doudney, K;
Genet Med. 2022; 24(4): 967
Korrekturen
[Hemispherotomy in pediatric epilepsy surgery-Surgical, epileptological and functional aspects].
Hartlieb, T; Kudernatsch, M; Staudt, M
Nervenarzt. 2022; 93(2):142-150
Übersichtsarbeiten
Multilobar unilateral hypoplasia with emphasis on the posterior quadrant and severe epilepsy in children with FCD ILAE Type 1A.
Holthausen, H; Coras, R; Tang, YY; Bai, L; Wang, RN; Pieper, T; Kudernatsch, M; Hartlieb, T; Staudt, M; Winkler, P; Hofer, W; Jabari, S; Kobow, K; Blumcke, I
Epilepsia. 2022; 63(1):42-60
Originalarbeiten (Zeitschrift)
External validation of a prediction model for estimating fat mass in children and adolescents in 19 countries: individual participant data meta-analysis.
Hudda, MT; Wells, JCK; Adair, LS; Alvero-Cruz, JRA; Ashby-Thompson, MN; Ballesteros-Vasquez, MN; Barrera-Exposito, J; Caballero, B; Carnero, EA; Cleghorn, GJ; Davies, PSW; Desmond, M; Devakumar, D; Gallagher, D; Guerrero-Alcocer, EV; Haschke, F; Horlick, M; Ben Jemaa, H; Khan, AI; Mankai, A; Monyeki, MA; Nashandi, HL; Ortiz-Hernandez, L; Plasqui, G; Reichert, FF; Robles-Sardin, AE; Rush, E; Shypailo, RJ; Sobiecki, JG; ten Hoor, GA; Valdes, J; Wickramasinghe, VP; Wong, WW; Riley, RD; Owen, CG; Whincup, PH; Nightingale, CM
BMJ-BRIT MED J. 2022; 378: e071185
Originalarbeiten (Zeitschrift)
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.
Isidor, B; Ebstein, F; Hurst, A; Vincent, M; Bader, I; Rudy, NL; Cogne, B; Mayr, J; Brehm, A; Bupp, C; Warren, K; Bacino, CA; Gerard, A; Ranells, JD; Metcalfe, KA; van Bever, Y; Jiang, YH; Mendelssohn, BA; Cope, H; Rosenfeld, JA; Blackburn, PR; Goodenberger, ML; Kearney, HM; Kennedy, J; Scurr, I; Szczaluba, K; Ploski, R; Martin, AD; Alembik, Y; Piton, A; Bruel, AL; Thauvin-Robinet, C; Strong, A; Diderich, KEM; Bourgeois, D; Dahan, K; Vignard, V; Bonneau, D; Colin, E; Barth, M; Camby, C; Baujat, G; Briceno, I; Gomez, A; Deb, W; Conrad, S; Besnard, T; Bezieau, S; Kruger, E; Kury, S; Stankiewicz, P
Genet Med. 2022; 24(1):179-191
Originalarbeiten (Zeitschrift)
Association between alanine aminotransferase as surrogate of fatty liver disease and physical activity and sedentary time in adolescents with obesity.
Julian, V; Bergsten, P; Ennequin, G; Forslund, A; Ahlstrom, H; Ciba, I; Dahlbom, M; Furthner, D; Gomahr, J; Kullberg, J; Maruszczak, K; Morwald, K; Olsson, R; Pixner, T; Schneider, A; Pereira, B; Ring-Dimitriou, S; Thivel, D; Weghuber, D;
Eur J Pediatr. 2022; 181(8): 3119-3129.
Originalarbeiten (Zeitschrift)
Effects of Movement Behaviors on Overall Health and Appetite Control: Current Evidence and Perspectives in Children and Adolescents.
Julian, V; Haschke, F; Fearnbach, N; Gomahr, J; Pixner, T; Furthner, D; Weghuber, D; Thivel, D;
Curr Obes Rep. 2022; 11(1):10-22
Übersichtsarbeiten
There Is a Clinical Need to Consider the Physical Activity: Sedentary Pattern in Children with Obesity - Position Paper of the European Childhood Obesity Group.
Julian, V; Ring-Dimitriou, S; Wyszyńska, J; Mazur, A; Matłosz, P; Frelut, ML; Erhardt, E; Vlachopapadopoulou, E; Forslund, A; Boyland, E; Weghuber, D; Thivel, D;
Ann Nutr Metab. 2022; 78(4):236-241
Originalarbeiten (Zeitschrift)
Sedentary time has a stronger impact on metabolic health than moderate to vigorous physical activity in adolescents with obesity: a cross-sectional analysis of the Beta-JUDO study.
Julina, V; Bergsten, P; Forslund, A; Ahlstrom, H; Ciba, I; Dahlbom, M; Furthner, D; Gomahr, J; Kullberg, J; Maruszczak, K; Mörwald, K; Olsson, R; Pixner, T; Schneider, A; Pereira, B;Thivel, D; Weghuber, D;
Pediatr Obes. 2022; 17(7):e12897
Originalarbeiten (Zeitschrift)
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Kaiyrzhanov, R; Mohammed, SEM; Maroofian, R; Husain, RA; Catania, A; Torraco, A; Alahmad, A; Dutra-Clarke, M; Grønborg, S; Sudarsanam, A; Vogt, J; Arrigoni, F; Baptista, J; Haider, S; Feichtinger, RG; Bernardi, P; Zulian, A; Gusic, M; Efthymiou, S; Bai, R; Bibi, F; Horga, A; Martinez-Agosto, JA; Lam, A; Manole, A; Rodriguez, DP; Durigon, R; Pyle, A; Albash, B; Dionisi-Vici, C; Murphy, D; Martinelli, D; Bugiardini, E; Allis, K; Lamperti, C; Reipert, S; Risom, L; Laugwitz, L; Di Nottia, M; McFarland, R; Vilarinho, L; Hanna, M; Prokisch, H; Mayr, JA; Bertini, ES; Ghezzi, D; Østergaard, E; Wortmann, SB; Carrozzo, R; Haack, TB; Taylor, RW; Spinazzola, A; Nowikovsky, K; Houlden, H;
Am J Hum Genet. 2022; 109(9): 169-1712.
Originalarbeiten (Zeitschrift)
Surgery for frontal lobe epilepsy: lobectomy or disconnective procedure?
Kudernatsch, M; Pieper, T; Hartlieb, T
Z EPILEPTOL. 2022;
Originalarbeiten (Zeitschrift)
Enalapril and Enalaprilat Pharmacokinetics in Children with Heart Failure Due to Dilated Cardiomyopathy and Congestive Heart Failure after Administration of an Orodispersible Enalapril Minitablet (LENA-Studies).
Laeer, S; Cawello, W; Burckhardt, BB; Ablonczy, L; Bajcetic, M; Breur, JMPJ; Dalinghaus, M; Male, C; de Wildt, SN; Breitkreutz, J; Faisal, M; Keatley-Clarke, A; Klingmann, I; Lagler, FB
PHARMACEUTICS. 2022; 14(6):
Originalarbeiten (Zeitschrift)
"Weak with Laughter"-Cataplexy as a Hint for Early Diagnosis of Niemann-Pick Type C?
Leppmeier, V; Veit, S; Demund, S; Makowski, C; Kluger, G;
Neuropediatrics. 2022; 53(2):146
Fallberichte
Targeted Molecular Strategies for Genetic Neurodevelopmental Disorders: Emerging Lessons from Dravet Syndrome.
Lersch, R; Jannadi, R; Grosse, L; Wagner, M; Schneider, MF; von Stulpnagel, C; Heinen, F; Potschka, H; Borggraefe, I
NEUROSCIENTIST. 2022; 10738584221088244
Übersichtsarbeiten
Evidence-based off-label use of drugs for children and adolescents International consortium of pediatric formularies providing the best-available evidence
Male, C; Neubert, A; Grytli, H; Gradwohl, C; Strommer, B; Lagler, FB; Rascher, W; Halvorsen, T; de Wildt, SN; van der Zanden, TM
MONATSSCHR KINDERH. 2022;
Originalarbeiten (Zeitschrift)
Determinants of hyperglucagonemia in pediatric non-alcoholic fatty liver disease
Maruszczak, K; Radzikowski, K; Schutz, S; Mangge, H; Bergsten, P; Forslund, A; Manell, H; Pixner, T; Ahlstrom, H; Kullberg, J; Morwald, K; Weghuber, D
FRONT ENDOCRINOL. 2022; 13: 1004128
Originalarbeiten (Zeitschrift)
Arginine-induced glucagon secretion and glucagon-induced enhancement of amino acid catabolism are not influenced by ambient glucose levels in mice
Maruszczak, K; Rasmussen, C; Ceutz, FR; Ogaard, A; Elmelund, E; Richter, MM; Holst, JJ; Winther-Sorensen, M; Albrechtsen, NJW
AM J PHYSIOL-ENDOC M. 2022; 323(3): E207-E214.
Originalarbeiten (Zeitschrift)
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism
Miceli, F; Millevert, C; Soldovieri, MV; Mosca, I; Ambrosino, P; Carotenuto, L; Schrader, D; Lee, HK; Riviello, J; Hong, W; Risen, S; Emrick, L; Amin, H; Ville, D; Edery, P; de Bellescize, J; Michaud, V; Van-Gils, J; Goizet, C; Willemsen, MH; Kleefstra, T; Moller, RS; Bayat, A; Devinsky, O; Sands, T; Korenke, GC; Kluger, G; Mefford, HC; Brilstra, E; Lesca, G; Milh, M; Cooper, EC; Taglialatela, M; Weckhuysen, S
EBIOMEDICINE. 2022; 81: 104130
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Cognitive profiles in pediatric unilobar vs. multilobar epilepsy
Moorhouse, FJ; Cornell, S; Gerstl, L; Wagner, J; Tacke, M; Roser, T; Heinen, F; von Stulpnagel, C; Vollmar, C; Kunz, M; Ramantani, G; Borggraefe, I
EUR J PAEDIATR NEURO. 2022; 41: 48-54.
Originalarbeiten (Zeitschrift)
Tick-Borne Encephalitis Virus RNA Found in Frozen Goatxxxs Milk in a Family Outbreak
Mylonaki, E; Seiberl, M; Jones, N; Bernhard, H; Otto, F; Pilz, G; Trinka, E; Wipfler, P
INT J MOL SCI. 2022; 23(19): 11632
Fallberichte
Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring
Nagy, D; Verheyen, S; Wigby, KM; Borovikov, A; Sharkov, A; Slegesky, V; Larson, A; Fagerberg, C; Brasch-Andersen, C; Kibaek, M; Bader, I; Hernan, R; High, FA; Chung, WK; Schieving, JH; Behunova, J; Smogavec, M; Laccone, F; Witsch-Baumgartner, M; Zobel, J; Duba, HC; Weis, D
GENES-BASEL. 2022; 13(1): 154
Originalarbeiten (Zeitschrift)
New-onset refractory status epilepticus (NORSE) and febrile infection-related epilepsy syndrome (FIRES) of unknown aetiology: A comparison of the incomparable?
Nausch, E; Schaffeldt, L; Tautorat, I; Margraf, NG; Häusler, M; Kluger, G; Kellinghaus, C; Borzikowsky, C; Laufs, H; van Baalen, A;
Seizure. 2022; 96:18-21
Originalarbeiten (Zeitschrift)
Efficacy and mid-term outcome of middle meningeal artery embolization with or without burr hole evacuation for chronic subdural hematoma compared with burr hole evacuation alone
Onyinzo, C; Berlis, A; Abel, M; Kudernatsch, M; Maurer, CJ
J NEUROINTERV SURG. 2022;
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Role of Energy Metabolism and Mitochondrial Function in Inflammatory Bowel Disease
Ozsoy, M; Stummer, N; Zimmermann, FA; Feichtinger, RG; Sperl, W; Weghuber, D; Schneider, AM
INFLAMM BOWEL DIS. 2022;
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Clinical and epilepsy characteristics in Wolf-Hirschhorn syndrome (4p-): A review.
Paprocka, J; Kaminiów, K; Yetkin, O; Tekturk, P; Baykan, B; Leiz, S; Kluger, G; Striano, P;
Seizure. 2022;
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Teaching NeuroImage: Bilateral Nucleus Tractus Solitarius Lesions in Neurogenic Respiratory Failure.
Parayil Sankaran, B; Wortman, SB; Willemsen, MA; Balasubramaniam, S;
Neurology. 2022; 98(1): e103-e104.
Originalarbeiten (Zeitschrift)
The Role of Macronutrients in the Pathogenesis, Prevention and Treatment of Non-Alcoholic Fatty Liver Disease (NAFLD) in the Paediatric Population-A Review.
Pixner, T; Stummer, N; Schneider, AM; Lukas, A; Gramlinger, K; Julian, V; Thivel, D; Mörwald, K; Maruszczak, K; Mangge, H; Gomahr, J; Weghuber, D; Furthner, D;
Life (Basel). 2022; 12(6):
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3 Cases of "Tropical" Pyomyositis in Austrian Children Without a History of Foreign Travel.
Prisching, C; Weghuber, D; Metzger, R; Winklinger, E; Ciupilan, E; Orendi, I; Spenger, J; Wintergerst, U;
Klin Padiatr. 2022;
Kurzberichte/Notes
Prevalence of comorbidities, and affective disorders in epilepsy: A latent class analysis approach.
Rainer, LJ; Granbichler, CA; Kobulashvili, T; Kuchukhidze, G; Rauscher, C; Renz, N; Langthaler, PB; Braun, M; Linehan, C; Christensen, J; Siebert, U; Trinka, E
EPILEPSY RES. 2022; 182: 106917
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100 years of inherited metabolic disorders in Austria-A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021.
Ramoser, G; Caferri, F; Radlinger, B; Brunner-Krainz, M; Herbst, S; Huemer, M; Hufgard-Leitner, M; Kircher, SG; Konstantopoulou, V; Löscher, W; Möslinger, D; Plecko, B; Spenger, J; Stulnig, T; Sunder-Plassmann, G; Wortmann, S; Scholl-Bürgi, S; Karall, D;
J Inherit Metab Dis. 2022; 45(2):144-156
Originalarbeiten (Zeitschrift)
Free threonine in human breast milk is related to infant intestinal microbiota composition.
Riederer, M; Schweighofer, N; Trajanoski, S; Stelzer, C; Zehentner, M; Fuchs-Neuhold, B; Kashofer, K; Mayr, JA; Hörmann-Wallner, M; Holasek, S; van der Kleyn, M;
Amino Acids. 2022; 54(3):365-383
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Mitochondrial Disease and Hearing Loss in Children: A Systematic Review.
Roesch, S; OSullivan, A; Zimmermann, G; Mair, A; Lipuš, C; Mayr, JA; Wortmann, SB; Rasp, G;
Laryngoscope. 2022; 132(12):2459-2472
Übersichtsarbeiten
Parental Perceptions of Childrenxxxs Weight Status in 22 Countries: The WHO European Childhood Obesity Surveillance Initiative: COSI 2015/2017
Salas, XR; Buoncristiano, M; Williams, J; Kebbe, M; Spinelli, A; Nardone, P; Rito, A; Duleva, V; Milanovic, SM; Kunesova, M; Braunerova, RT; Hejgaard, T; Rasmussen, M; Shengelia, L; Abdrakhmanova, S; Abildina, A; Usuopva, Z; Hyska, J; Burazeri, G; Petrauskiene, A; Pudule, I; SantxxxAngelo, VF; Kujundzic, E; Fijalkowska, A; Cucu, A; Brinduse, LA; Peterkova, V; Bogova, E; Gualtieri, A; Solano, MG; Gutierrez-Gonzalez, E; Rakhmatullaeva, S; Tanrygulyyeva, M; Yardim, N; Weghuber, D; Maeki, P; Jonsson, KR; Starc, G; Juliusson, PB; Heinen, MM; Kelleher, C; Ostojic, S; Popovic, S; Kovacs, VA; Akhmedova, D; Farpour-Lambert, NJ; Rutter, H; Li, B; Boymatova, K; Rakovac, I; Wickramasinghe, K; Breda, J
OBESITY FACTS. 2022;
Originalarbeiten (Zeitschrift)
Exertional Dyspnea as the Main Symptom in an Adolescent Athlete With Coronary Artery Anomaly - A Case Report.
Sareban, M; Hergan, K; Covi, P; Niebauer, J
FRONT CARDIOVASC MED. 2022; 9: 872608
Originalarbeiten (Zeitschrift)
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Scala, M; Wortmann, SB; Kaya, N; Stellingwerff, MD; Pistorio, A; Glamuzina, E; van Karnebeek, CD; Skrypnyk, C; Iwanicka-Pronicka, K; Piekutowska-Abramczuk, D; Ciara, E; Tort, F; Sheidley, B; Poduri, A; Jayakar, P; Jayakar, A; Upadia, J; Walano, N; Haack, TB; Prokisch, H; Aldhalaan, H; Karimiani, EG; Yildiz, Y; Ceylan, AC; Santiago-Sim, T; Dameron, A; Yang, H; Toosi, MB; Ashrafzadeh, F; Akhondian, J; Imannezhad, S; Mirzadeh, HS; Maqbool, S; Farid, A; Al-Muhaizea, MA; Alshwameen, MO; Aldowsari, L; Alsagob, M; Alyousef, A; AlMass, R; AlHargan, A; Alwadei, AH; AlRasheed, MM; Colak, D; Alqudairy, H; Khan, S; Lines, MA; García Cazorla, MÁ; Ribes, A; Morava, E; Bibi, F; Haider, S; Ferla, MP; Taylor, JC; Alsaif, HS; Firdous, A; Hashem, M; Shashkin, C; Koneev, K; Kaiyrzhanov, R; Efthymiou, S; Genomics, QS; Schmitt-Mechelke, T; Ziegler, A; Issa, MY; Elbendary, HM; Striano, P; Alkuraya, FS; Zaki, MS; Gleeson, JG; Barakat, TS; Bierau, J; van der Knaap, MS; Maroofian, R; Houlden, H;
Hum Mutat. 2022; 43(3):403-419
Originalarbeiten (Zeitschrift)
Expression of Oxidative Phosphorylation Complexes and Mitochondrial Mass in Pediatric and Adult Inflammatory Bowel Disease.
Schneider, AM; Özsoy, M; Zimmermann, FA; Brunner, SM; Feichtinger, RG; Mayr, JA; Kofler, B; Neureiter, D; Klieser, E; Aigner, E; Schütz, S; Stummer, N; Sperl, W; Weghuber, D;
Oxid Med Cell Longev. 2022; 2022: 9151169
Originalarbeiten (Zeitschrift)
Dead space washout by intentional leakage flow during conventional ventilation of premature infants-an experimental study.
Schober, M; Bohnhorst, B; Annon-Eberharter, N; Wald, M
PEDIATR PULM. 2022; 57(9): 1998-2002.
Originalarbeiten (Zeitschrift)
Stabilisiation and resuscitation of term neonates after birth Based on the current European Resuscitation Council (ERC) 2021 guidelines
Schwindt, JC; Grass, B; Schafer, S; Deindl, P; Schwindt, EM; Wald, M; Schroth, M
MONATSSCHR KINDERH. 2022;
Originalarbeiten (Zeitschrift)
Difficult mask ventilation in the neonate. A structured approach to optimize noninvasive ventilation
Schwindt, JC; Schafer, S; Grass, B; Deindl, P; Schwindt, EM; Wald, M; Schroth, M
MONATSSCHR KINDERH. 2022;
Originalarbeiten (Zeitschrift)
Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families (vol 7, 32, 2021)
Spenger, J; Maier, EM; Wechselberger, K; Bauder, F; Kocher, M; Sperl, W; Preisel, M; Schiergens, KA; Konstantopoulou, V; Roschinger, W; Haberle, J; Schmitt-Mechelke, T; Wortmann, SB; Fingerhut, R
INT J NEONAT SCREEN. 2022; 8(1): 2
Korrekturen
Exploring the relationships between composite scores of disease severity, seizure-freedom and quality of life in Dravet syndrome.
Strzelczyk, A; Kurlemann, G; Bast, T; Bettendorf, U; Kluger, G; Mayer, T; Neubauer, BA; Polster, T; von Spiczak, S; Trollmann, R; Wolff, M; Toward, T; Gruenert, J; Gibson, E; Pritchard, C; Carroll, J; Rosenow, F; Schubert-Bast, S;
Neurol Res Pract. 2022; 4(1): 22
Originalarbeiten (Zeitschrift)
Hydrogen Sulfide Metabolizing Enzymes in the Intestinal Mucosa in Pediatric and Adult Inflammatory Bowel Disease.
Stummer, N; Weghuber, D; Feichtinger, RG; Huber, S; Mayr, JA; Kofler, B; Neureiter, D; Klieser, E; Hochmann, S; Lauth, W; Schneider, AM;
Antioxidants (Basel). 2022; 11(11):
Originalarbeiten (Zeitschrift)
Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights.
Tucker, EJ; Baker, MJ; Hock, DH; Warren, JT; Jaillard, S; Bell, KM; Sreenivasan, R; Bakhshalizadeh, S; Hanna, CA; Caruana, NJ; Wortmann, SB; Rahman, S; Pitceathly, RDS; Donadieu, J; Alimi, A; Launay, V; Coppo, P; Christin-Maitre, S; Robevska, G; van den Bergen, J; Kline, BL; Ayers, KL; Stewart, PN; Stroud, DA; Stojanovski, D; Sinclair, AH;
J Clin Endocrinol Metab. 2022; 107(12):3328-3340
Originalarbeiten (Zeitschrift)
Adherence to Treatment Recommendations in Chronic Disease: What Is (Im)Possible? Expert Conclusions from the 30th ECOG Workshop 2021.
Vallis, M; Boyland, E; Caroli, M; Erhardt, E; Frelut, ML; Mazur, A; Molnar, D; Torbahn, G; Ring-Dimitriou, S; Stenlid, R; Thivel, D; Vlachopapadopoulou, E; Weghuber, D;
Ann Nutr Metab. 2022; 78(6):352-358
Übersichtsarbeiten
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Vogel, GF; Mozer-Glassberg, Y; Landau, YE; Schlieben, LD; Prokisch, H; Feichtinger, RG; Mayr, JA; Brennenstuhl, H; Schröter, J; Pechlaner, A; Alkuraya, FS; Baker, JJ; Barcia, G; Baric, I; Braverman, N; Burnyte, B; Christodoulou, J; Ciara, E; Coman, D; Das, AM; Darin, N; Della Marina, A; Distelmaier, F; Eklund, EA; Ersoy, M; Fang, W; Gaignard, P; Ganetzky, RD; Gonzales, E; Howard, C; Hughes, J; Konstantopoulou, V; Kose, M; Kerr, M; Khan, A; Lenz, D; McFarland, R; Margolis, MG; Morrison, K; Müller, T; Murayama, K; Nicastro, E; Pennisi, A; Peters, H; Piekutowska-Abramczuk, D; Rötig, A; Santer, R; Scaglia, F; Schiff, M; Shagrani, M; Sharrard, M; Soler-Alfonso, C; Staufner, C; Storey, I; Stormon, M; Taylor, RW; Thorburn, DR; Teles, EL; Wang, JS; Weghuber, D; Wortmann, S;
Genet Med. 2022;
Originalarbeiten (Zeitschrift)
Ketogenic diets slow melanoma growth in vivo regardless of tumor genetics and metabolic plasticity.
Weber, DD; Aminzadeh-Gohari, S; Thapa, M; Redtenbacher, AS; Catalano, L; Capelôa, T; Vazeille, T; Emberger, M; Felder, TK; Feichtinger, RG; Koelblinger, P; Dallmann, G; Sonveaux, P; Lang, R; Kofler, B;
Cancer Metab. 2022; 10(1): 12
Originalarbeiten (Zeitschrift)
Once-Weekly Semaglutide in Adolescents with Obesity.
Weghuber, D; Barrett, T; Barrientos-Pérez, M; Gies, I; Hesse, D; Jeppesen, OK; Kelly, AS; Mastrandrea, LD; Sørrig, R; Arslanian, S;
N Engl J Med. 2022; 387(24):2245-2257
Originalarbeiten (Zeitschrift)
Semaglutide treatment for obesity in teenagers: a plain language summary of the STEP TEENS research study.
Weghuber, D; Boberg, K; Hesse, D; Jeppesen, OK; Sørrig, R; Kelly, AS;
J Comp Eff Res. 2022;
Übersichtsarbeiten
Dear Colleagues!
Weghuber, D; Greber-Platzer, S
PADIATR PADOL. 2022; 57(SUPPL 1): 1-1.
Editorials
Uric acid and gamma-glutamyl-transferase in children and adolescents with obesity: Association to anthropometric measures and cardiometabolic risk markers depending on pubertal stage, sex, degree of weight loss and type of patient care: Evaluation of the adiposity patient follow-up registry.
Weihrauch-Blüher, S; Wiegand, S; Weihe, P; Prinz, N; Weghuber, D; Leipold, G; Dannemann, A; Bergjohann, L; Reinehr, T; Holl, RW;
Pediatr Obes. 2022; e12989
Originalarbeiten (Zeitschrift)
Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study.
Weiss, C; Ziegler, A; Becker, LL; Johannsen, J; Brennenstuhl, H; Schreiber, G; Flotats-Bastardas, M; Stoltenburg, C; Hartmann, H; Illsinger, S; Denecke, J; Pechmann, A; Muller-Felber, W; Vill, K; Blaschek, A; Smitka, M; van der Stam, L; Weiss, K; Winter, B; Goldhahn, K; Plecko, B; Horber, V; Bernert, G; Husain, RA; Rauscher, C; Trollmann, R; Garbade, SF; Hahn, A; von der Hagen, M; Kaindl, AM
LANCET CHILD ADOLESC. 2022; 6(1): 17-27.
Originalarbeiten (Zeitschrift)
Clinical characteristics and cardiovascular risk profile in children and adolescents with latent autoimmune diabetes: Results from the German/Austrian prospective diabetes follow-up registry.
Welters, A; Tittel, SR; Reinehr, T; Weghuber, D; Wiegand, S; Karges, W; Freiberg, C; Meissner, T; Schloot, NC; Holl, RW;
Pediatr Diabetes. 2022; 23(8):1602-1612
Originalarbeiten (Zeitschrift)
Temporal Dynamics of MOG Antibodies in Children With Acquired Demyelinating Syndrome
Wendel, EM; Thonke, HS; Bertolini, A; Baumann, M; Blaschek, A; Merkenschlager, A; Karenfort, M; Kornek, B; Lechner, C; Pohl, D; Pritsch, M; Schanda, K; Schimmel, M; Thiels, C; Waltz, S; Wiegand, G; Anlar, B; Barisic, N; Blank, C; Breu, M; Broser, P; Della Marina, A; Diepold, K; Eckenweiler, M; Eisenkolbl, A; Freilinger, M; Gruber-Sedlmayr, U; Hackenberg, A; Iff, T; Knierim, E; Koch, J; Kutschke, G; Leiz, S; Lischetzki, G; Nosadini, M; Pschibul, A; Reiter-Fink, E; Rohrbach, D; Salandin, M; Sartori, S; Schlump, JU; Stoffels, J; Strautmanis, J; Tibussek, D; Tungler, V; Utzig, N; Reindl, M; Rostasy, K
NEUROL-NEUROIMMUNOL. 2022; 9(6): e200035
Originalarbeiten (Zeitschrift)
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.
Wortmann, SB; Oud, MM; Alders, M; Coene, KLM; van der Crabben, SN; Feichtinger, RG; Garanto, A; Hoischen, A; Langeveld, M; Lefeber, D; Mayr, JA; Ockeloen, CW; Prokisch, H; Rodenburg, R; Waterham, HR; Wevers, RA; van de Warrenburg, BPC; Willemsen, MAAP; Wolf, NI; Vissers, LELM; van Karnebeek, CDM;
J Inherit Metab Dis. 2022; 45(4): 663-681.
Übersichtsarbeiten
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Yépez, VA; Gusic, M; Kopajtich, R; Mertes, C; Smith, NH; Alston, CL; Ban, R; Beblo, S; Berutti, R; Blessing, H; Ciara, E; Distelmaier, F; Freisinger, P; Häberle, J; Hayflick, SJ; Hempel, M; Itkis, YS; Kishita, Y; Klopstock, T; Krylova, TD; Lamperti, C; Lenz, D; Makowski, C; Mosegaard, S; Müller, MF; Muñoz-Pujol, G; Nadel, A; Ohtake, A; Okazaki, Y; Procopio, E; Schwarzmayr, T; Smet, J; Staufner, C; Stenton, SL; Strom, TM; Terrile, C; Tort, F; Van Coster, R; Vanlander, A; Wagner, M; Xu, M; Fang, F; Ghezzi, D; Mayr, JA; Piekutowska-Abramczuk, D; Ribes, A; Rötig, A; Taylor, RW; Wortmann, SB; Murayama, K; Meitinger, T; Gagneur, J; Prokisch, H;
Genome Med. 2022; 14(1): 38
Originalarbeiten (Zeitschrift)
Safety and Potential Efficacy of Escalating Dose of Ustekinumab in Pediatric Crohn Disease (the Speed-up Study): A Multicenter Study from the Pediatric IBD Porto Group of ESPGHAN
Yerushalmy-Feler, A; Pujol-Muncunill, G; Martin-de-Carpi, J; Kolho, KL; Levine, A; Olbjorn, C; Granot, M; Bramuzzo, M; Rolandsdotter, H; Mouratidou, N; Hradsky, O; Scarallo, L; Matar, M; Rimon, RM; Rinawi, F; Shalem, T; Najajra, H; de Meij, T; Aloi, M; Rodriguez-Belvis, MV; Alvisi, P; Schneider, AM; van Rheenen, P; Navas-Lopez, VM; Kiparissi, F; Barrio, J; Turner, D; Cohen, S
J PEDIATR GASTR NUTR. 2022; 75(6): 717-723.
Originalarbeiten (Zeitschrift)
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
Zech, M; Kopajtich, R; Steinbrücker, K; Bris, C; Gueguen, N; Feichtinger, RG; Achleitner, MT; Duzkale, N; Périvier, M; Koch, J; Engelhardt, H; Freisinger, P; Wagner, M; Brunet, T; Berutti, R; Smirnov, D; Navaratnarajah, T; Rodenburg, RJT; Pais, LS; Austin-Tse, C; OLeary, M; Boesch, S; Jech, R; Bakhtiari, S; Jin, SC; Wilbert, F; Kruer, MC; Wortmann, SB; Eckenweiler, M; Mayr, JA; Distelmaier, F; Steinfeld, R; Winkelmann, J; Prokisch, H;
Ann Neurol. 2022; 91(2): 225-237.
Originalarbeiten (Zeitschrift)

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

Deep subcutaneous adipose tissue is associated with hyperinsulinemia in adolescents
Cerenius, SY; Stenlid, R; Aydin, B; Weghuber, D; Bergsten, P; Forslund, A
HORM RES PAEDIAT. 2022; 95(SUPPL 2): 60-61.
Abstracts (Zeitschrift)
THE CLINICAL AND MOLECULAR LANDSCAPE OF CONGENITAL MYASTHENIC SYNDROMES IN AUSTRIA: A NATIONWIDE STUDY
Keritam, O; Krenn, M; Sener, M; Rath, J; Zulehner, G; Zimprich, F; Wagner, M; Marte, S; Baumgartner, M; Eisenkolbl, A; Kellersmann, A; Rappold, M; Bernert, G; Quastoff, S; Grinzinger, S; Spenger, J; Wortmann, SB; Loscher, W; Freilinger, M; Cetin, H
MUSCLE NERVE. 2022; 65: S46-S46.
Abstracts (Zeitschrift)
Triglyceride mediated upregulation of UCP3 in murine heart
Locker, F; Szarzynski, A; Beikbaghban, T; Gregor, A; Duszka, K; Walter, I; Kofler, B; Pohl, EE
BIOPHYS J. 2022; 121(3): 513A-513A.
Abstracts (Zeitschrift)
Glucagon, NAFLD and Amino Acids - an Evidence Map
Maruszczak, K; Koren, P; Radzikowski, K; Torbahn, G; Weghuber, D
ANN NUTR METAB. 2022; 78(5): 298-298.
Abstracts (Zeitschrift)
Determinants of Hyperglucagonemia in Pediatric Non-Alcoholic Fatty Liver Disease
Maruszczak, K; Radzikowski, K; Schutz, S; Bergsten, P; Mannell, H; Forslund, A; Morwald, K; Mangge, H; Weghuber, D
ANN NUTR METAB. 2022; 78(5): 298-298.
Abstracts (Zeitschrift)
Six Months of Treatment with Bydureon (R) (Exenatide) Lowers 11 Inflammatory Biomarkers in Adolescents with Obesity
Stenlid, R; Cerenius, S; Wen, Q; Weghuber, D; Manell, H; Ciba, I; Bergsten, P; Forslund, A
ANN NUTR METAB. 2022; 78(5): 300-300.
Abstracts (Zeitschrift)
Six-months of treatment with exenatide improves glycemic control, but does not affect endogenous intact GLP-1 concentrations in adolescents with obesity
Stenlid, R; Cerenius, SY; Aydin, BK; Gjessing, ES; Manell, H; Weghuber, D; Forslund, A; Bergsten, P
HORM RES PAEDIAT. 2022; 95(SUPPL 2): 97-97.
Abstracts (Zeitschrift)
Ketogenic diet-induced cardiac fibrosis is independent of long-chain and medium-chain fatty acid content and mitochondrial biogenesis in mice.
Sternberg, F; Sternberg, C; Duszka, K; Beikhbaghban, T; Gregor, A; Szarzynski, A; Walter, I; Kofler, B; Pohl, EE
BBA-BIOENERGETICS. 2022; 1863: 96-96.
Abstracts (Zeitschrift)
PIGG variant pathogenicity assessment reveals novel features within nineteen families
Tremblay-Laganiere, C; Maroofian, R; Nguyen, TTM; Karimiani, EG; Kirmani, S; Akbar, F; Ibrahim, S; Afroze, B; Doosti, M; Ashrafzadeh, F; Babaei, M; Efthymiou, S; Sultan, T; Ladda, RL; McLaughlin, HM; Truty, R; Mahida, S; Cohen, JS; Baranano, K; Ismail, FY; Patel, MS; Lehman, A; Edmondson, AC; Nagy, A; Walker, MA; Mercimek-Andrews, S; Maki, Y; Sachdev, R; Macintosh, R; Palmer, EE; Mancini, GMS; Barakat, TS; Steinfeld, R; Rusch, CT; Stettner, GM; Wagner, M; Wortmann, SB; Kini, U; Brady, AF; Stals, KL; Ismayilova, N; Ellard, S; Bernardo, D; Nugent, K; McLean, SD; Antonarakis, SE; Houlden, H; Kinoshita, T; Campeau, PM; Murakami, Y
EUR J HUM GENET. 2022; 30(SUPPL 1): 274-274.
Abstracts (Zeitschrift)
S02-1 Physical activity and sedentary behaviour of children aged 6-9 in Europe: an analysis within the Childhood Obesity Surveillance Initiative (COSI)
Whiting, S; Buoncristiano, M; Gelius, P; Abu-Omar, K; Pattison, M; Hyska, J; Duleva, V; Milanovic, SM; Zamrazilova, H; Hejgaard, T; Rasmussen, M; Nurk, E; Shengelia, L; Kelleher, CC; Heinen, MM; Spinelli, A; Nardone, P; Abildina, A; Abdrakhmanova, S; Aitmurzaeva, G; Usuopva, Z; Pudule, I; Petrauskiene, A; Angelo, VFS; Kujundzic, E; Popovic, S; Fismen, AS; Bergh, IH; Fijalkowska, A; Rito, AI; Cucu, A; Brinduse, LA; Peterkova, V; Gualtieri, A; Garcia-Solano, M; Gutierrez-Gonzalez, E; Abdurrahmonova, Z; Boymatova, K; Yardim, N; Tanrygulyyeva, M; Weghuber, D; Schindler, K; Stojisavljevic, D; Hadziomeragic, AF; Ionnaidu, EM; Ahrens, W; Hassapidou, M; Kovacs, VA; Ostojic, SM; Ticha, L; Starc, G; Jonsson, KR; Spiroski, I; Rutter, H; Mendes, R; Williams, J; Rakovac, I; Breda, J
EUR J PUBLIC HEALTH. 2022; 32:
Abstracts (Zeitschrift)
Assessing pathogenicity of novel mitochondrial DNA variants
Winkler, A; Ahting, U; Lorenz-Depiereux, B; Berutti, R; Mayr, JA; Husain, RA; Hahn, A; Scholle, L; Rosenbohm, A; Lisfeld, J; Hempel, M; Muller-Felber, W; Catarino, C; Strom, TM; Meitinger, T; Klopstock, T; Thorburn, D; Christodoulou, J; Prokisch, H; Wortmann, S; Wagner, M
EUR J HUM GENET. 2022; 30(SUPPL 1): 203-204.
Abstracts (Zeitschrift)
Safety and Potential Efficacy of Escalating Dose of Ustekinumab in Pediatric Crohnxxxs disease (the SPEED-UP study) - A multi-center study from the paediatric IBD Porto group of ESPGHAN
Yerushalmy-Feler, A; Pujol-Muncunill, G; Martin-De-Carpi, J; Kolho, KL; Levine, A; Olbjorn, C; Granot, M; Bramuzzo, M; Rolandsdotter, HJ; Mouratidou, N; Hradsky, O; Scarallo, L; Matar, M; Rimon, RM; Rinawi, F; Shalem, T; Najajra, H; de Meij, T; Aloi, M; Rodriguez-Belvis, MV; Alvisi, P; Schneider, AM; van Rheenen, P; Navas-Lopez, VM; Kiparissi, F; Barrio, J; Turner, D; Cohen, S
J CROHNS COLITIS. 2022; 16: I435-I435.
Abstracts (Zeitschrift)
Safety and Potential Efficacy of Escalating Dose of Ustekinumab in Pediatric Crohnxxxs disease (the SPEED-UP study) - A multi-center study from the paediatric IBD Porto group of ESPGHAN
Yerushalmy-Feler, A; Pujol-Muncunill, G; Martin-De-Carpi, J; Kolho, KL; Levine, A; Olbjorn, C; Granot, M; Bramuzzo, M; Rolandsdotter, HJ; Mouratidou, N; Hradsky, O; Scarallo, L; Matar, M; Rimon, RM; Rinawi, F; Shalem, T; Najajra, H; de Meij, T; Aloi, M; Rodriguez-Belvis, MV; Alvisi, P; Schneider, AM; Van Rheenen, P; Navas-Lopez, VM; Kiparissi, F; Barrio, J; Turner, D; Cohen, S
J CROHNS COLITIS. 2022; 16: I435-I435.
Abstracts (Zeitschrift)

Originalbeiträge in Sammelwerk (Buchbeitrag)

Disorders of Oxidative Phosphorylation
Shamima Rahman, Johannes A. Mayr
In: Jean-Marie Saudubray, Matthias R. Baumgartner, Angeles Garcia-Cazorla, John Walter editors(s). Inborn Metabolic Diseases. 7th Edition: Berlin: Springer-Verlag GmbH; p. 894. (ISBN: 978-3-662-63122-5)
1) 3-Methylglutaconic Acidurias 2) Disorders of Complex Lipids 3) Genomic Approaches for the Diagnosis of Inborn Errors of Metabolism
1) Saskia B. Wortmann and Johannes A Mayr 2) Frédéric M. Vaz, Saskia B. Wortmann, and Fanny Mochel 3) Sarah L. Stenton, Johannes A. Mayr, Saskia B. Wortmann, and Holger Prokisch
In: Nenad Blau, Carlo Dionisi Vici, Carlos R. Ferreira, Christine Vianey-Saban, Clara D. M. van Karnebeek editors(s). Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. 2: Springer International Publishing; p. 1534. (ISBN: 978-3-030-67726-8 )

2021

Beiträge in Fachzeitschriften

Deep Brain Stimulation in KMT2B-Related Dystonia: Case Report and Review of the Literature With Special Emphasis on Dysarthria and Speech.
Abel, M; Pfister, R; Hussein, I; Alsalloum, F; Onyinzo, C; Kappl, S; Zech, M; Demmel, W; Staudt, M; Kudernatsch, M; Berweck, S
FRONT NEUROL. 2021; 12: 662910
Übersichtsarbeiten
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy.
Accogli, A; Wiegand, G; Scala, M; Cerminara, C; Iacomino, M; Riva, A; Carlini, B; Camerota, L; Belcastro, V; Prontera, P; Fernandez-Jaen, A; Bebek, N; Scudieri, P; Baldassari, S; Salpietro, V; Novelli, G; De Luca, C; von Stulpnagel, C; Kluger, F; Kluger, GJ; Wohlrab, GC; Ramantani, G; Lewis-Smith, D; Thomas, RH; Lai, M; Verrotti, A; Striano, S; Depienne, C; Minetti, C; Benfenati, F; Brancati, F; Zara, F; Striano, P
Neurology. 2021; 97(6):e577-e586
Fallberichte
Safety and efficacy of rufinamide in children and adults with Lennox-Gastaut syndrome: A post hoc analysis from Study 022.
Arzimanoglou, A; Pringsheim, M; Kluger, GJ; Genton, P; Perdomo, C; Malhotra, M
Epilepsy Behav. 2021; 124:108275
Originalarbeiten (Zeitschrift)
When synchronized isn"t synchronous- an experimental benchmarking study on the efficiency of SIMV in very-low-birth weight premature infants.
Auer-Hackenberg, L; Haselmann, C; Brandner, J; Hofstaetter, E; Stroicz, P; Wald, M;
Minerva Pediatr (Torino). 2021;
Originalarbeiten (Zeitschrift)
Three Novel EPCAM Variants Causing Tufting Enteropathy in Three Families
Ayyıldız Civan, H; Leitner, C; Östreicher, I; Schneider, AM; Cremer, M; Mayr, JA; Rossi, R; Müller, T; Janecke, AR;
Children (Basel). 2021; 8(6):
Fallberichte
Cytosolic Phosphoenolpyruvate Carboxykinase Deficiency: Cause of Hypoglycemia-Induced Seizure and Death.
Becker, J; Haas, NA; Vlaho, S; Heineking, B; Wortmann, SB; Rabenhorst, D; Thomas, C; Brunet, T;
Neuropediatrics. 2021; 52(5):398-402
Fallberichte
Project "Backtoclinic I": An overview on the state of care of adult PKU patients in Austria.
Beghini, M; Resch, FJ; Moslinger, D; Konstantopoulou, V; Karall, D; Scholl-Burgi, S; Brunner-Krainz, M; Plecko, B; Spenger, J; Kautzky-Willer, A; Scherer, T; Hufgard-Leitner, M
MOL GENET METAB. 2021; 133(3): 257-260.
Originalarbeiten (Zeitschrift)
A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse.
Biagosch, CA; Vidali, S; Faerberboeck, M; Hensler, SV; Becker, L; Amarie, OV; Aguilar-Pimentel, A; Garrett, L; Klein-Rodewald, T; Rathkolb, B; Zanuttigh, E; Calzada-Wack, J; da Silva-Buttkus, P; Rozman, J; Treise, I; Fuchs, H; Gailus-Durner, V; de Angelis, MH; Janik, D; Wurst, W; Mayr, JA; Klopstock, T; Meitinger, T; Prokisch, H; Iuso, A;
Mamm Genome. 2021; 32(5):332-349
Originalarbeiten (Zeitschrift)
Hematopoietic stem cell transplantation in children and adolescents with GATA2-related myelodysplastic syndrome
Bortnick, R; Wlodarski, M; de Haas, V; De Moerloose, B; Dworzak, M; Hasle, H; Masetti, R; Stary, J; Turkiewicz, D; Ussowicz, M; Kozyra, E; Albert, M; Bader, P; Bordon, V; Cario, G; Beier, R; Schulte, J; Bresters, D; Muller, I; Pichler, H; Sedlacek, P; Sauer, MG; Zecca, M; Gohring, G; Yoshimi, A; Noellke, P; Erlacher, M; Locatelli, F; Niemeyer, CM; Strahm, B
BONE MARROW TRANSPL. 2021;
Originalarbeiten (Zeitschrift)
Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS.
Braun, F; Hentschel, A; Sickmann, A; Marteau, T; Hertel, S; Förster, F; Prokisch, H; Wagner, M; Wortmann, S; Della Marina, A; Kölbel, H; Roos, A; Schara-Schmidt, U;
Int J Mol Sci. 2021; 22(15):
Fallberichte
Methodology and implementation of the WHO European Childhood Obesity Surveillance Initiative (COSI).
Breda, J; McColl, K; Buoncristiano, M; Williams, J; Abdrakhmanova, S; Abdurrahmonova, Z; Ahrens, W; Akhmedova, D; Bakacs, M; Boer, JMA; Boymatova, K; Brinduse, LA; Cucu, A; Duleva, V; Endevelt, R; SantxxxAngelo, VF; Fijalkowska, A; Hadziomeragic, AF; Garcia-Solano, M; Groholt, EK; Gualtieri, A; Hassapidou, M; Hejgaard, T; Hyska, J; Kelleher, CC; Kujundzic, E; Maki, P; Ioannidou, EM; Melkumova, M; Moyersoen, I; Milanovic, SM; Nurk, E; Ostojic, SM; Peterkova, V; Petrauskiene, A; Pudule, I; Rito, AI; Jonsson, KR; Rutter, H; Salanave, B; Seyidov, N; Shengelia, L; Silitrari, N; Spinelli, A; Spiroski, I; Starc, G; Stojisavljevic, D; Tanrygulyyeva, M; Ticha, L; Usupova, Z; Weghuber, D; Yardim, N; Zamrazilova, H; Zbanatskyi, V; Branca, F; Weber, M; Rakovac, I
OBES REV. 2021; 22 Suppl 6: e13215
Originalarbeiten (Zeitschrift)
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
Brunet, T; McWalter, K; Mayerhanser, K; Anbouba, GM; Armstrong-Javors, A; Bader, I; Baugh, E; Begtrup, A; Bupp, CP; Callewaert, BL; Cereda, A; Cousin, MA; Jimenez, JCDR; Demmer, L; Dsouza, NR; Fleischer, N; Gavrilova, RH; Ghate, S; Graf, E; Green, A; Green, SR; Iascone, M; Kdissa, A; Klee, D; Klee, EW; Lancaster, E; Lindstrom, K; Mayr, JA; McEntagart, M; Meeks, NJL; Mittag, D; Moore, H; Olsen, AK; Ortiz, D; Parsons, G; Pena, LDM; Person, RE; Punj, S; Ramos-Rivera, GA; Sacoto, MJG; Bradley Schaefer, G; Schnur, RE; Scott, TM; Scott, DA; Serbinski, CR; Shashi, V; Siu, VM; Stadheim, BF; Sullivan, JA; Švantnerová, J; Velsher, L; Wargowski, DS; Wentzensen, IM; Wieczorek, D; Winkelmann, J; Yap, P; Zech, M; Zimmermann, MT; Meitinger, T; Distelmaier, F; Wagner, M;
Genet Med. 2021; 23(2):384-395
Originalarbeiten (Zeitschrift)
Galanin receptor 3 attenuates inflammation and influences the gut microbiota in an experimental murine colitis model.
Brunner, SM; Reichmann, F; Leitner, J; Wölfl, S; Bereswill, S; Farzi, A; Schneider, AM; Klieser, E; Neureiter, D; Emberger, M; Heimesaat, MM; Weghuber, D; Lang, R; Holzer, P; Kofler, B;
Sci Rep. 2021; 11(1):564
Originalarbeiten (Zeitschrift)
Lichtschutz für Lösungen zur parenteralen Ernährung von Säuglingen und Kindern bis zum Alter von 2 Jahren
Bundesverband Deutscher Krankenhausapotheker e. V. (ADKA) · Ernährungskommission der Deutschen Gesellschaft für Kinder- und Jugendmedizin e. V. (DGKJ) · Ernährungskommission der Österreichischen Gesellschaft für Kinder und Jugendheilkunde (ÖGKJ) · Arbeitsgemeinschaft Chronisches Darmversagen (AGCDV) der Gesellschaft für Pädiatrische Gastroenterologie und Ernährung e. V. (GPGE) · Walter A. Mihatsch1
Monatsschrift Kinderheilkunde. 2021;
Übersichtsarbeiten – Beitrag als Studygroup-Member
Socioeconomic inequalities in overweight and obesity among 6- to 9-year-old children in 24 countries from the World Health Organization European region.
Buoncristiano, M; Williams, J; Simmonds, P; Nurk, E; Ahrens, W; Nardone, P; Rito, AI; Rutter, H; Bergh, IH; Starc, G; Jonsson, KR; Spinelli, A; Vandevijvere, S; Maki, P; Milanovic, SM; Salanave, B; Yardim, MS; Hejgaard, T; Fijalkowska, A; Abdrakhmanova, S; Abdurrahmonova, Z; Duleva, V; SantxxxAngelo, VF; Garcia-Solano, M; Gualtieri, A; Gutierrez-Gonzalez, E; Huidumac-Petrescu, C; Hyska, J; Kelleher, CC; Kujundzic, E; Peterkova, V; Petrauskiene, A; Pudule, I; Sacchini, E; Shengelia, L; Tanrygulyyeva, M; Braunerova, RT; Usupova, Z; Maruszczak, K; Ostojic, SM; Spiroski, I; Stojisavljevic, D; Wickramasinghe, K; Breda, J
Obes Rev. 2021; 22 Suppl 6:e13213
Originalarbeiten (Zeitschrift)
Front-Of-Pack Nutrition Labelling: A Position Statement of the European Academy of Paediatrics and the European Childhood Obesity Group.
Dereń, K; Dembiński, Ł; Wyszyńska, J; Mazur, A; Weghuber, D; Łuszczki, E; Hadjipanayis, A; Koletzko, B;
Ann Nutr Metab. 2021; 77(1):23-28
Übersichtsarbeiten
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.
Dias, C; Pfundt, R; Kleefstra, T; Shuurs-Hoeijmakers, J; Boon, EMJ; van Hagen, JM; Zwijnenburg, P; Weiss, MM; Keren, B; Mignot, C; Isapof, A; Weiss, K; Hershkovitz, T; Iascone, M; Maitz, S; Feichtinger, RG; Kotzot, D; Mayr, JA; Ben-Omran, T; Mahmoud, L; Pais, LS; Walsh, CA; Shashi, V; Sullivan, JA; Stong, N; Lecoquierre, F; Guerrot, AM; Charollais, A; Rodan, LH;
Am J Med Genet A. 2021; 185(8): 2384-2390.
Originalarbeiten (Zeitschrift)
Development and validation of a self-reported questionnaire to assess occupational balance in parents of preterm infants.
Dür, M; Röschel, A; Oberleitner-Leeb, C; Herrmanns, V; Pichler-Stachl, E; Mattner, B; Pernter, SD; Wald, M; Urlesberger, B; Kurz, H; Frischer, T; Zwiauer, K; Berger, A;
PLoS One. 2021; 16(11): e0259648
Originalarbeiten (Zeitschrift)
Thiamine Treatment and Favorable Outcome in an Infant with Biallelic TPK1 Variants.
Eckenweiler, M; Mayr, JA; Grünert, S; Abicht, A; Korinthenberg, R;
Neuropediatrics. 2021; 52(2):123-125
Originalarbeiten (Zeitschrift)
A novel cryptic splice site mutation in COL1A2 as a cause of osteogenesis imperfecta
El-Gazzar, A; Mayr, JA; Voraberger, B; Brugger, K; Blouin, S; Tischlinger, K; Duba, HC; Prokisch, H; Fratzl-Zelman, N; Högler, W;
Bone Rep. 2021; 15: 101110
Fallberichte
Acute symptomatic seizures and posttraumatic epilepsy after traumatic brain injury in adults and children
Feichtinger, M; Koch, J
Z EPILEPTOL. 2021;
Originalarbeiten (Zeitschrift)
A spoonful of L-fucose-an efficient therapy for GFUS-CDG, a new glycosylation disorder.
Feichtinger, RG; Hüllen, A; Koller, A; Kotzot, D; Grote, V; Rapp, E; Hofbauer, P; Brugger, K; Thiel, C; Mayr, JA; Wortmann, SB;
EMBO Mol Med. 2021; 13(9): e14332
Originalarbeiten (Zeitschrift)
Long-Term Outcome and Role of Biology within Risk-Adapted Treatment Strategies: The Austrian Neuroblastoma Trial A-NB94.
Fiedler, S; Ambros, IM; Glogova, E; Benesch, M; Urban, C; Mayer, M; Ebetsberger-Dachs, G; Bardi, E; Jones, N; Gamper, A; Meister, B; Crazzolara, R; Amann, G; Dieckmann, K; Horcher, E; Kerbl, R; Brunner-Herglotz, B; Ziegler, A; Ambros, PE; Ladenstein, R
CANCERS. 2021; 13(3):
Originalarbeiten (Zeitschrift)
Rehabilitation for children and adolescents after cancer: importance and implementation in Austria
Fischmeister, G; Riedl, D; Sanio, G; Bogendorfer, T; Holzner, B; Rumpold, G; Nickels, A; Licht, T; Sperl, W
MEMO-MAG EUR MED ONC. 2021;
Übersichtsarbeiten
Socioeconomic differences in food habits among 6-to 9-year-old children from 23 countries-WHO European Childhood Obesity Surveillance Initiative (COSI 2015/2017)
Fismen, AS; Buoncristiano, M; Williams, J; Helleve, A; Bakacs, M; Bergh, IH; Duleva, V; Fijalkowska, A; Gualtieri, A; Hejgaard, T; Hyska, J; Kelleher, CC; Kierkegaard, L; Kujundzic, E; Kunesova, M; Milanovic, SM; Nardone, P; Nurk, E; Ostojic, SM; Petrauskiene, A; Rakovac, I; Rito, AI; Rutter, H; Sacchini, E; Stojisavljevic, D; SantxxxAngelo, VF; Shengelia, L; Spinelli, A; Spiroski, I; Tanrygulyyeva, M; Weghuber, D; Breda, J
OBES REV. 2021; e13211
Originalarbeiten (Zeitschrift)
Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect.
Friederich, MW; Geddes, GC; Wortmann, SB; Punnoose, A; Wartchow, E; Knight, KM; Prokisch, H; Creadon-Swindell, G; Mayr, JA; Van Hove, JLK;
Mol Genet Metab. 2021; 133(4):362-371
Originalarbeiten (Zeitschrift)
Rehabilitation of Children and Adolescents with Diabetes in Austria: Concept of the Austrian Working Group for Paediatric Diabetes and Endocrinology and the Austrian Society of Paediatrics Version 1: October 2020
Frohlich-Reiterer, E; Cavini, A; Fischmeister, G; Prchla, C; Tauschmann, M; Berger, G; Steichen, E; Steigleder-Schweiger, C; Kovacic, R; Rami-Merhar, B; Hofer, SE; Karall, D; Sperl, W; Kerbl, R
PADIATR PADOL. 2021;
Originalarbeiten (Zeitschrift)
The Role of Protein and Fat Intake on Insulin Therapy in Glycaemic Control of Paediatric Type 1 Diabetes: A Systematic Review and Research Gaps.
Furthner, D; Lukas, A; Schneider, AM; Mörwald, K; Maruszczak, K; Gombos, P; Gomahr, J; Steigleder-Schweiger, C; Weghuber, D; Pixner, T;
Nutrients. 2021; 13(10):
Übersichtsarbeiten
Personalized approach to childhood obesity: Lessons from gut microbiota and omics studies. Narrative review and insights from the 29th European childhood obesity congress
Gawlik, A; Salonen, A; Jian, C; Yanover, C; Antosz, A; Shmoish, M; Wasniewska, M; Bereket, A; Wudy, SA; Hartmann, MF; Thivel, D; Matusik, P; Weghuber, D; Hochberg, Z
PEDIATR OBES. 2021; e12835
Übersichtsarbeiten
A knock-in rat model unravels acute and chronic renal toxicity in glutaric aciduria type I.
Gonzalez Melo, M; Fontana, AO; Viertl, D; Allenbach, G; Prior, JO; Rotman, S; Feichtinger, RG; Mayr, JA; Costanzo, M; Caterino, M; Ruoppolo, M; Braissant, O; Barbey, F; Ballhausen, D;
Mol Genet Metab. 2021; 134(4):287-300
Originalarbeiten (Zeitschrift)
The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery.
Gonzalez Melo, M; Remacle, N; Cudré-Cung, HP; Roux, C; Poms, M; Cudalbu, C; Barroso, M; Gersting, SW; Feichtinger, RG; Mayr, JA; Costanzo, M; Caterino, M; Ruoppolo, M; Rüfenacht, V; Häberle, J; Braissant, O; Ballhausen, D;
Mol Genet Metab. 2021; 133(2):157-181
Originalarbeiten (Zeitschrift)
Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study.
Grau, J; Zollner, JP; Schubert-Bast, S; Kurlemann, G; Hertzberg, C; Wiemer-Kruel, A; Bast, T; Bertsche, A; Bettendorf, U; Fiedler, B; Hahn, A; Hartmann, H; Hornemann, F; Immisch, I; Jacobs, J; Kieslich, M; Klein, KM; Klotz, KA; Kluger, G; Knuf, M; Mayer, T; Marquard, K; Meyer, S; Muhle, H; Muller-Schluter, K; Noda, AH; Ruf, S; Sauter, M; Schlump, JU; Syrbe, S; Thiels, C; Trollmann, R; Wilken, B; Willems, LM; Rosenow, F; Strzelczyk, A
Orphanet J Rare Dis. 2021; 16(1):282
Originalarbeiten (Zeitschrift)
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Guimier, A; Achleitner, MT; de Bellaing, AM; Edwards, M; de Pontual, L; Mittal, K; Dunn, KE; Grove, ME; Tysoe, CJ; Dimartino, C; Cameron, J; Kanthi, A; Shukla, A; van den Broek, F; Chatterjee, D; Alston, CL; Knowles, CV; Brett, L; Till, JA; Homfray, T; French, P; Spentzou, G; Elserafy, NA; Lichkus, KS; Sankaran, BP; Kennedy, HL; George, PM; Kidd, A; Wortmann, SB; Fisk, DG; Koopmann, TT; Rafiq, MA; Merker, JD; Parikh, S; Ahimaz, P; Weintraub, RG; Ma, AS; Turner, C; Ellaway, CJ; Phillips, LK; Thorburn, DR; Chung, WK; Kana, SL; Faye-Petersen, OM; Thompson, ML; Janin, A; McLeod, K; McGowan, R; McFarland, R; Girisha, KM; Morris-Rosendahl, DJ; Hurst, ACE; Turner, CLS; Hamilton, RM; Taylor, RW; Bajolle, F; Gordon, CT; Amiel, J; Mayr, JA; Doudney, K;
Genet Med. 2021; 23(12):2415-2425
Originalarbeiten (Zeitschrift)
Impact of low-dose calcipotriol ointment on wound healing, pruritus and pain in patients with dystrophic epidermolysis bullosa: A randomized, double-blind, placebo-controlled trial.
Guttmann-Gruber, C; Hofbauer, JP; Tockner, B; Reichl, V; Klausegger, A; Hofbauer, P; Wolkersdorfer, M; Tham, KC; Lim, SS; Common, JE; Diem, A; Ude-Schoder, K; Hitzl, W; Lagler, F; Reichelt, J; Bauer, JW; Lang, R; Laimer, M
ORPHANET J RARE DIS. 2021; 16(1): 473
Originalarbeiten (Zeitschrift)
[Home infusion therapy for Pompe disease: Recommendations for German-speaking countries].
Hahn, A; Lampe, C; Boentert, M; Hundsberger, T; Loscher, W; Wenninger, S; Ziegler, A; Lagler, F; Ballhausen, D; Schlegel, T; Schoser, B
Fortschr Neurol Psychiatr. 2021; 89(12):630-636
Originalarbeiten (Zeitschrift)
Step-by-Step Concepts for Baby Milk Statement of the Nutrition Commission of the Austrian Society for Pediatrics and Adolescent Medicine
Haiden, N & Ernährungskommission der Österreichischen Gesellschaft für Kinder- und Jugendheilkunde
MONATSSCHR KINDERH. 2021; 169(10): 951-953.
Kurzberichte/Notes
Urban and rural differences in frequency of fruit, vegetable, and soft drink consumption among 6-9-year-old children from 19 countries from the WHO European region.
Heinen, MM; Bel-Serrat, S; Kelleher, CC; Buoncristiano, M; Spinelli, A; Nardone, P; Milanovic, SM; Rito, AI; Bosi, ATB; Gutierrrez-Gonzalez, E; Pudule, I; Abdrakhmanova, S; Abdurrahmonova, Z; Brinduse, LA; Cucu, A; Duleva, V; Fijalkowska, A; Gualtieri, A; Hejgaard, T; Hyska, J; Kujundzic, E; Petrauskiene, A; Sacchini, E; Shengelia, L; Tanrygulyyeva, M; Usupova, Z; Bergh, IH; Weghuber, D; Braunerova, RT; Kunesova, M; SantxxxAngelo, VF; Nurk, E; Ostojic, SM; Spiroski, I; Ticha, L; Rutter, H; Williams, J; Boymatova, K; Rakovac, I; Weber, MW; Breda, J
Obes Rev. 2021; 22 Suppl 6:e13207
Originalarbeiten (Zeitschrift)
A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria.
Herle, M; Brunner-Krainz, M; Karall, D; Goeschl, B; Moslinger, D; Zobel, J; Plecko, B; Scholl-Burgi, S; Spenger, J; Wortmann, SB; Huemer, M
ORPHANET J RARE DIS. 2021; 16(1): 367
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Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.
Hikmat, O; Isohanni, P; Keshavan, N; Ferla, MP; Fassone, E; Abbott, MA; Bellusci, M; Darin, N; Dimmock, D; Ghezzi, D; Houlden, H; Invernizzi, F; Jaman, NBK; Kurian, MA; Morava, E; Naess, K; Ortigoza-Escobar, JD; Parikh, S; Pennisi, A; Barcia, G; Tylleskar, KB; Brackman, D; Wortmann, SB; Taylor, JC; Bindoff, LA; Fellman, V; Rahman, S
Ann Clin Transl Neurol. 2021; 8(11):2155-2165
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Epilepsy in Nicolaides-Baraitser Syndrome: Review of Literature and Report of 25 Patients Focusing on Treatment Aspects.
Hofmeister, B; von Stulpnagel, C; Betzler, C; Mari, F; Renieri, A; Baldassarri, M; Haberlandt, E; Jansen, K; Schilling, S; Weber, P; Ahlbory, K; Tang, S; Berweck, S; Kluger, G
Neuropediatrics. 2021; 52(2):109-122
Übersichtsarbeiten
Introduction and feeding practices of solid food in preterm infants born in Salzburg!
Hofstätter, E; Köttstorfer, V; Stroicz, P; Schütz, S; Auer-Hackenberg, L; Brandner, J; Wald, M;
BMC Pediatr. 2021; 21(1): 56
Originalarbeiten (Zeitschrift)
Congenital disorders of glycosylation with defective fucosylation.
Hüllen, A; Falkenstein, K; Weigel, C; Huidekoper, H; Naumann-Bartsch, N; Spenger, J; Feichtinger, RG; Schaefers, J; Frenz, S; Kotlarz, D; Momen, T; Khoshnevisan, R; Riedhammer, KM; Santer, R; Herget, T; Rennings, A; Lefeber, DJ; Mayr, JA; Thiel, C; Wortmann, SB;
J Inherit Metab Dis. 2021; 44(6):1441-1452
Originalarbeiten (Zeitschrift)
ATP synthase deficiency due to m.8528T>C mutation - a novel cause of severe neonatal hyperammonemia requiring hemodialysis.
Žigman, T; Šikić, K; Petković Ramadža, D; Mayr, J; Wortmann, S; Prokisch, H; Ninković, D; Dilber, D; Šarić, D; Rubić, F; Galić, S; Slaviček, J; Belina, D; Fumić, K; Barić, I;

Fallberichte
Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome.
Inak, G; Rybak-Wolf, A; Lisowski, P; Pentimalli, TM; Jüttner, R; Glažar, P; Uppal, K; Bottani, E; Brunetti, D; Secker, C; Zink, A; Meierhofer, D; Henke, MT; Dey, M; Ciptasari, U; Mlody, B; Hahn, T; Berruezo-Llacuna, M; Karaiskos, N; Di Virgilio, M; Mayr, JA; Wortmann, SB; Priller, J; Gotthardt, M; Jones, DP; Mayatepek, E; Stenzel, W; Diecke, S; Kühn, R; Wanker, EE; Rajewsky, N; Schuelke, M; Prigione, A;
Nat Commun. 2021; 12(1): 1929
Originalarbeiten (Zeitschrift)
Heterogeneous contributions of change in population distribution of body mass index to change in obesity and underweight NCD Risk Factor Collaboration (NCD-RisC)
Iurilli, MLC; Zhou, B; Bennett, JE; Carrillo-Larco, RM; Sophiea, MK; Rodriguez-Martinez, A; Bixby, H; Solomon, BD; Taddei, C; Danaei, G; Di Cesare, M; Stevens, GA; Riley, LM; Savin, S; Cowan, MJ; Bovet, P; Damasceno, A; Chirita-Emandi, A; Hayes, AJ; Ikeda, N; Jackson, R; Khang, YH; Laxmaiah, A; Liu, J; Miranda, JJ; Saidi, O; Sebert, S; Soric, M; Starc, G; Gregg, EW; Abarca-Gomez, L; Abdeen, ZA; Abdrakhmanova, S; Ghaffar, SA; Rahim, HFA; Abu-Rmeileh, NM; Garba, JA; Acosta-Cazares, B; Adams, RJ; Aekplakorn, W; Afsana, K; Afzal, S; Agdeppa, IA; Aghazadeh-Attari, J; Aguilar-Salinas, CA; Agyemang, C; Ahmad, MH; Ahmad, NA; Ahmadi, A; Ahmadi, N; Ahmed, SH; Ahrens, W; Aitmurzaeva, G; Ajlouni, K; Al-Hazzaa, HM; Al-Lahou, B; Al-Raddadi, R; Alarouj, M; AlBuhairan, F; AlDhukair, S; Ali, MM; Alkandari, A; Alkerwi, A; Allin, K; Alvarez-Pedrerol, M; Aly, E; Amarapurkar, DN; Amiri, P; Amougou, N; Amouyel, P; Andersen, LB; Anderssen, SA; Angquist, L; Anjana, RM; Ansari-Moghaddam, A; Aounallah-Skhiri, H; Araujo, J; Ariansen, I; Aris, T; Arku, RE; Arlappa, N; Aryal, KK; Aspelund, T; Assah, FK; Assuncao, MCF; Aung, MS; Auvinen, J; Avdicova, M; Avi, S; Azevedo, A; Azimi-Nezhad, M; Azizi, F; Azmin, M; Babu, BV; Jorgensen, MB; Baharudin, A; Bahijri, S; Baker, JL; Balakrishna, N; Bamoshmoosh, M; Banach, M; Bandosz, P; Banegas, JR; Baran, J; Barbagallo, CM; Barcelo, A; Barkat, A; Barros, AJ; Barros, MVG; Basit, A; Bastos, JLD; Bata, I; Batieha, AM; Batista, RL; Battakova, Z; Batyrbek, A; Baur, LA; Beaglehole, R; Bel-Serrat, S; Belavendra, A; Ben Romdhane, H; Benedics, J; Benet, M; Bergh, IH; Berkinbayev, S; Bernabe-Ortiz, A; Bernotiene, G; Bettiol, H; Bezerra, J; Bhagyalaxmi, A; Bharadwaj, S; Bhargava, SK; Bhutta, ZA; Bi, HS; Bi, YF; Bia, D; Lele, ECB; Bikbov, MM; Bista, B; Bjelica, DJ; Bjerregaard, P; Bjertness, E; Bjertness, MB; Bjorkelund, C; Bloch, KV; Blokstra, A; Bo, S; Bobak, M; Boddy, LM; Boehm, BO; Boeing, H; Boggia, JG; Bogova, E; Boissonnet, CP; Bojesen, SE; Bonaccio, M; Bongard, V; Bonilla-Vargas, A; Bopp, M; Borghs, H; Braeckevelt, L; Braeckman, L; Bragt, MCE; Brajkovich, I; Branca, F; Breckenkamp, J; Breda, J; Brenner, H; Brewster, LM; Brian, GR; Brinduse, L; Brophy, S; Bruno, G; Bueno-de-Mesquita, HB; Bugge, A; Buoncristiano, M; Burazeri, G; Burns, C; de Leon, AC; Cacciottolo, J; Cai, H; Cama, T; Cameron, C; Camolas, J; Can, G; Candido, APC; Canete, F; Capanzana, MV; Capkova, N; Capuano, E; Capuano, V; Cardol, M; Cardoso, VC; Carlsson, AC; Carmuega, E; Carvalho, J; Casajus, JA; Casanueva, FF; Celikcan, E; Censi, L; Cervantes-Loaiza, M; Cesar, JA; Chamukuttan, S; Chan, AW; Chan, Q; Chaturvedi, HK; Chaturvedi, N; Rahim, NCA; Chee, ML; Chen, CJ; Chen, FF; Chen, HS; Chen, SH; Chen, ZM; Cheng, CY; Cheraghian, B; Chetrit, A; Chikova-Iscener, E; Chiolero, A; Chiou, ST; Chirlaque, MD; Cho, BL; Christensen, K; Christofaro, DG; Chudek, J; Cifkova, R; Cilia, M; Cinteza, E; Claessens, F; Clarke, J; Clays, E; Cohen, E; Concin, H; Confortin, SC; Cooper, C; Coppinger, TC; Corpeleijn, E; Costanzo, S; Cottel, D; Cowell, C; Craig, CL; Crampin, AC; Crujeiras, AB; Csilla, S; Cucu, AM; Cui, LF; Cureau, FV; Czenczek-Lewandowska, E; DxxxArrigo, G; DxxxOrsi, E; Dacica, L; Saavedra, MAD; Dallongeville, J; Damsgaard, CT; Dankner, R; Dantoft, TM; Dasgupta, P; Dastgiri, S; Dauchet, L; Davletov, K; De Backer, G; De Bacquer, D; de Gaetano, G; De Henauw, S; de Oliveira, PD; De Ridder, D; De Ridder, K; de Rooij, SR; De Smedt, D; Deepa, M; Deev, AD; DeGennaro, V; Dehghan, A; Delisle, H; Delpeuch, F; Demarest, S; Dennison, E; Deren, K; Deschamps, V; Dhimal, M; Di Castelnuovo, A
ELIFE. 2021; 10: e60060
Originalarbeiten (Zeitschrift)
DNA methylation-based classification of malformations of cortical development in the human brain
Jabari, S; Kobow, K; Pieper, T; Hartlieb, T; Kudernatsch, M; Polster, T; Bien, CG; Kalbhenn, T; Simon, M; Hamer, H; Rossler, K; Feucht, M; Muhlebner, A; Najm, I; Peixoto-Santos, JE; Gil-Nagel, A; Delgado, RT; Aledo-Serrano, A; Hou, YH; Coras, R; von Deimling, A; Blumcke, I
ACTA NEUROPATHOL. 2021;
Originalarbeiten (Zeitschrift)
Appropriate cleaning of breast milk pumps Statement of the nutrition committees of the German Society for Pediatric and Adolescent Medicine (DGKJ) and the Austrian Society for Pediatric and Adolescent Medicine (oGKJ) after reports of severe infections in neonates after insufficient cleaning
Jochum, F
MONATSSCHR KINDERH. 2021;
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Association between Metabolic Syndrome Diagnosis and the Physical Activity-Sedentary Profile of Adolescents with Obesity: A Complementary Analysis of the Beta-JUDO Study.
Julian, V; Ciba, I; Olsson, R; Dahlbom, M; Furthner, D; Gomahr, J; Maruszczak, K; Morwald, K; Pixner, T; Schneider, A; Pereira, B; Duclos, M; Weghuber, D; Thivel, D; Bergsten, P; Forslund, A;
Nutrients. 2021; 14(1):
Originalarbeiten (Zeitschrift)
Does the severity of obesity influence bone density, geometry and strength in adolescents?
Julian, V; OxxxMalley, G; Metz, L; Weghuber, D; Courteix, D; Fillon, A; Boirie, Y; Duclos, M; Pereira, B; Thivel, D
Pediatr Obes. 2021; 16(12):e12826
Originalarbeiten (Zeitschrift)
Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum.
Kaiyrzhanov, R; Wortmann, S; Reid, T; Dehghani, M; Vahidi Mehrjardi, MY; Alhaddad, B; Wagner, M; Deschauer, M; Cordts, I; Fernandez-Murray, JP; Treffer, V; Metanat, Z; Pitman, A; Houlden, H; Meitinger, T; Carroll, C; McMaster, CR; Maroofian, R;
Brain. 2021; 144(3): e30
Letter
[Chorioretinal atrophy in pediatric cerebral folate deficiency-a preventable disease?]
Kakkassery, V; Koschmieder, A; Walther, F; Lehbrink, R; Bertsche, A; Wortmann, SB; Buchmann, J; Jager, M; Friedburg, C; Lorenz, B; Junemann, A
Ophthalmologe. 2021; 118(4):383-390
Fallberichte
Cardiometabolic efficacy of multidisciplinary weight loss interventions is not altered in adolescents with obesity initially diagnosed or with a persistent metabolic syndrome.
Khammassi, M; Isacco, L; Pereira, B; Damaso, AR; Matlosz, P; Maruszczak, K; Weghuber, D; Dutheil, F; Duclos, M; Boirie, Y; Julian, V; Thivel, D;
Nutr Res. 2021; 86: 79-87.
Originalarbeiten (Zeitschrift)
Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Klöckner, C; Sticht, H; Zacher, P; Popp, B; Babcock, HE; Bakker, DP; Barwick, K; Bonfert, MV; Bönnemann, CG; Brilstra, EH; Chung, WK; Clarke, AJ; Devine, P; Donkervoort, S; Fraser, JL; Friedman, J; Gates, A; Ghoumid, J; Hobson, E; Horvath, G; Keller-Ramey, J; Keren, B; Kurian, MA; Lee, V; Leppig, KA; Lundgren, J; McDonald, MT; McLaughlin, HM; McTague, A; Mefford, HC; Mignot, C; Mikati, MA; Nava, C; Raymond, FL; Sampson, JR; Sanchis-Juan, A; Shashi, V; Shieh, JTC; Shinawi, M; Slavotinek, A; Stödberg, T; Stong, N; Sullivan, JA; Taylor, AC; Toler, TL; van den Boogaard, MJ; van der Crabben, SN; van Gassen, KLI; van Jaarsveld, RH; Van Ziffle, J; Wadley, AF; Wagner, M; Wigby, K; Wortmann, SB; Zarate, YA; Møller, RS; Lemke, JR; Platzer, K;
Genet Med. 2021; 23(4): 796
Korrekturen
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Klöckner, C; Sticht, H; Zacher, P; Popp, B; Babcock, HE; Bakker, DP; Barwick, K; Bonfert, MV; Bönnemann, CG; Brilstra, EH; Chung, WK; Clarke, AJ; Devine, P; Donkervoort, S; Fraser, JL; Friedman, J; Gates, A; Ghoumid, J; Hobson, E; Horvath, G; Keller-Ramey, J; Keren, B; Kurian, MA; Lee, V; Leppig, KA; Lundgren, J; McDonald, MT; McTague, A; Mefford, HC; Mignot, C; Mikati, MA; Nava, C; Raymond, FL; Sampson, JR; Sanchis-Juan, A; Shashi, V; Shieh, JTC; Shinawi, M; Slavotinek, A; Stödberg, T; Stong, N; Sullivan, JA; Taylor, AC; Toler, TL; van den Boogaard, MJ; van der Crabben, SN; van Gassen, KLI; van Jaarsveld, RH; Van Ziffle, J; Wadley, AF; Wagner, M; Wigby, K; Wortmann, SB; Zarate, YA; Møller, RS; Lemke, JR; Platzer, K;
Genet Med. 2021; 23(4):653-660
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Neurological early rehabilitation in children and adolescents
Koch, J
MONATSSCHR KINDERH. 2021;
Originalarbeiten (Zeitschrift)
Distinct gene-set burden patterns underlie common generalized and focal epilepsies.
Koko, M; Krause, R; Sander, T; Bobbili, DR; Nothnagel, M; May, P; Lerche, H;
EBioMedicine. 2021; 72: 103588
Originalarbeiten (Zeitschrift)
Elevated transaminases potentiate the risk for emerging dysglycemia in children with overweight and obesity.
Koutny, F; Stein, R; Kiess, W; Weghuber, D; Koerner, A
Pediatr Obes. 2021; 16(12):e12822
Originalarbeiten (Zeitschrift)
Delineation of epileptic and neurodevelopmental phenotypes associated with variants in STX1B.
Krenn, M; Schloegl, M; Pataraia, E; Gelpi, E; Schröder, S; Rauscher, C; Mayr, JA; Kotzot, D; Zimprich, F; Meitinger, T; Wagner, M;
Seizure. 2021; 87: 25-29.
Originalarbeiten (Zeitschrift)
Case Report and Review of the Literature: A New and a Recurrent Variant in the
Kušíková, K; Feichtinger, RG; Csillag, B; Kalev, OK; Weis, S; Duba, HC; Mayr, JA; Weis, D;
Front Pediatr. 2021; 9: 660076
Fallberichte
Intranasal Delivery of a Methyllanthionine-Stabilized Galanin Receptor-2-Selective Agonist Reduces Acute Food Intake
Kuipers, A; Balasko, M; Petervari, E; Koller, A; Brunner, SM; Moll, GN; Kofler, B
NEUROTHERAPEUTICS. 2021;
Originalarbeiten (Zeitschrift)
Challenges in clinical trials for children and young people.
Lagler, FB; Hirschfeld, S; Kindblom, JM;
Arch Dis Child. 2021; 106(4):321-325
Übersichtsarbeiten
OEGKJ Annual Conference 2021 Pediatrics Complex Interview with Univ.Prof. Dr. Wolfgang Sperl
Lessky-Hohl, R; Sperl, W
PADIATR PADOL. 2021; 56(4): 142-143.
News-Items
Involvement of Neuropeptide Galanin Receptors 2 and 3 in Learning, Memory and Anxiety in Aging Mice.
Locker, F; Bieler, L; Nowack, LMF; Leitner, J; Brunner, SM; Zaunmair, P; Kofler, B; Couillard-Despres, S
MOLECULES. 2021; 26(7):
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[Molecular medicine: pathobiochemistry as the key to personalized treatment of inherited diseases].
Mayr, JA; Feichtinger, RG; Achleitner, MT; Brugger, K; Kutsam, K; Spenger, J; Koch, J; Hofbauer, P; Lagler, FB; Sperl, W; Weghuber, D; Wortmann, SB;
Monatsschr Kinderheilkd. 2021; 169(9):828-836
Originalarbeiten (Zeitschrift)
Socioeconomic disparities in physical activity, sedentary behavior and sleep patterns among 6- to 9-year-old children from 24 countries in the WHO European region.
Milanovic, SM; Buoncristiano, M; Krizan, H; Rathmes, G; Williams, J; Hyska, J; Duleva, V; Zamrazilova, H; Hejgaard, T; Jorgensen, MB; Salanave, B; Shengelia, L; Kelleher, CC; Spinelli, A; Nardone, P; Abdrakhmanova, S; Usupova, Z; Pudule, I; Petrauskiene, A; SantxxxAngelo, VF; Kujundzic, E; Fijalkowska, A; Rito, AI; Cucu, A; Brinduse, LA; Peterkova, V; Gualtieri, A; Garcia-Solano, M; Gutierrez-Gonzalez, E; Boymatova, K; Yardim, MS; Tanrygulyyeva, M; Melkumova, M; Weghuber, D; Nurk, E; Maki, P; Bergh, IH; Ostojic, SM; Jonsson, KR; Spiroski, I; Rutter, H; Ahrens, W; Rakovac, I; Whiting, S; Breda, J
Obes Rev. 2021; 22 Suppl 6:e13209
Originalarbeiten (Zeitschrift)
Effects of an exclusive human-milk diet in preterm neonates on early vascular aging risk factors (NEOVASC): study protocol for a multicentric, prospective, randomized, controlled, open, and parallel group clinical trial.
Mitterer, W; Binder, C; Blassnig-Ezeh, A; Auer-Hackenberg, L; Berger, A; Simma, B; Wald, M; Lee, M; Kiechl-Kohlendorfer, U
TRIALS. 2021; 22(1): 509
Originalarbeiten (Zeitschrift)
Teaching NeuroImages: Neuroimaging Findings in Inosine Triphosphate Pyrophosphohydrolase Deficiency.
Muthusamy, K; Boyer, S; Patterson, M; Bierau, J; Wortmann, S; Morava, E;
Neurology. 2021; 97(1):e109-e110
Fallberichte
Visual Field Defects before and after pediatric Epilepsy Surgery Clinical Signs, child-oriented Diagnostics, Adaptation before and after Epilepsy Surgery
Neumayr, L; Gschaidmeier, A; Trauzettel-Klosinski, S; Pieper, T; Kudernatsch, M; Hofer, W; Bajer, C; Staudt, M
Z EPILEPTOL. 2021;
Originalarbeiten (Zeitschrift)
Casein Kinase 1D Encodes a Novel Drug Target in Hedgehog-GLI-Driven Cancers and Tumor-Initiating Cells Resistant to SMO Inhibition
Peer, E; Aichberger, SK; Vilotic, F; Gruber, W; Parigger, T; Grund-Groschke, S; Elmer, DP; Rathje, F; Ramspacher, A; Zaja, M; Michel, S; Hamm, S; Aberger, F
CANCERS. 2021; 13(16): 4227
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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
Pelletier, F; Perrier, S; Cayami, FK; Mirchi, A; Saikali, S; Tran, LT; Ulrick, N; Guerrero, K; Rampakakis, E; van Spaendonk, RML; Naidu, S; Pohl, D; Gibson, WT; Demos, M; Goizet, C; Tejera-Martin, I; Potic, A; Fogel, BL; Brais, B; Sylvain, M; Sebire, G; Lourenço, CM; Bonkowsky, JL; Catsman-Berrevoets, C; Pinto, PS; Tirupathi, S; Strømme, P; de Grauw, T; Gieruszczak-Bialek, D; Krägeloh-Mann, I; Mierzewska, H; Philippi, H; Rankin, J; Atik, T; Banwell, B; Benko, WS; Blaschek, A; Bley, A; Boltshauser, E; Bratkovic, D; Brozova, K; Cimas, I; Clough, C; Corenblum, B; Dinopoulos, A; Dolan, G; Faletra, F; Fernandez, R; Fletcher, J; Garcia Garcia, ME; Gasparini, P; Gburek-Augustat, J; Gonzalez Moron, D; Hamati, A; Harting, I; Hertzberg, C; Hill, A; Hobson, GM; Innes, AM; Kauffman, M; Kirwin, SM; Kluger, G; Kolditz, P; Kotzaeridou, U; La Piana, R; Liston, E; McClintock, W; McEntagart, M; McKenzie, F; Melançon, S; Misbahuddin, A; Suri, M; Monton, FI; Moutton, S; Murphy, RPJ; Nickel, M; Onay, H; Orcesi, S; Özkınay, F; Patzer, S; Pedro, H; Pekic, S; Pineda Marfa, M; Pizzino, A; Plecko, B; Poll-The, BT; Popovic, V; Rating, D; Rioux, MF; Rodriguez Espinosa, N; Ronan, A; Ostergaard, JR; Rossignol, E; Sanchez-Carpintero, R; Schossig, A; Senbil, N; Sønderberg Roos, LK; Stevens, CA; Synofzik, M; Sztriha, L; Tibussek, D; Timmann, D; Tonduti, D; van de Warrenburg, BP; Vázquez-López, M; Venkateswaran, S; Wasling, P; Wassmer, E; Webster, RI; Wiegand, G; Yoon, G; Rotteveel, J; Schiffmann, R; van der Knaap, M; Vanderver, A; Martos-Moreno, GÁ; Polychronakos, C; Wolf, NI; Bernard, G;
J Clin Endocrinol Metab. 2021; 106(2):e660-e674
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Dysmorphic neurons as cellular source for phase-amplitude coupling in Focal Cortical Dysplasia Type II.
Rampp, S; Rössler, K; Hamer, H; Illek, M; Buchfelder, M; Doerfler, A; Pieper, T; Hartlieb, T; Kudernatsch, M; Koelble, K; Peixoto-Santos, JE; Blümcke, I; Coras, R;
Clin Neurophysiol. 2021; 132(3): 782-792.
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Clinical Experience of Neurological Mitochondrial Diseases in Children and Adults: A Single-Center Study
Rogac, M; Neubauer, D; Leonardis, L; Pecaric, N; Meznaric, M; Maver, A; Sperl, W; Garavaglia, BM; Lamantea, E; Peterlin, B
BALK J MED GENET. 2021; 24(2): 5-14.
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Galactokinase deficiency: lessons from the GalNet registry.
Rubio-Gozalbo, ME; Derks, B; Das, AM; Meyer, U; Moslinger, D; Couce, ML; Empain, A; Ficicioglu, C; Palacios, NJ; De Pelegrin, MMD; Rivera, IA; Scholl-Burgi, S; Bosch, AM; Cassiman, D; Demirbas, D; Gautschi, M; Knerr, I; Labrune, P; Skouma, A; Verloo, P; Wortmann, SB; Treacy, EP; Timson, DJ; Berry, GT
GENET MED. 2021; 23(1): 202-210.
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Thiamine Pyrophosphokinase Deficiency due to Mutations in the TPK1 Gene: A Rare, Treatable Neurodegenerative Disorder.
Rusch, CT; Wortmann, SB; Kovacs-Nagy, R; Grehten, P; Haberle, J; Latal, B; Stettner, GM
Neuropediatrics. 2021; 52(2):126-132
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Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.
Schänzer, A; Achleitner, M; Trümbach, D; Hubert, L; Munnich, A; Ahlemeyer, B; AlAbdulrahim, MM; Greif, PA; Vosberg, S; Hummer, B; Feichtinger, RG; Mayr, JA; Wortmann, SB; Aichner, H; Rudnik-Schöneborn, S; Ruiz, A; Gabau, E; Sánchez, JP; Ellard, S; Homfray, T; Stals, KL; Wurst, W; Neubauer, BA; Acker, T; Bohlander, SK; Asensio, C; Besmond, C; Alkuraya, FS; AlSayed, MD; Hahn, A; Weber, A;
Ann Neurol. 2021; 90(1):143-158
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Combined vitamin D and vitamin K supplements for children and adolescents: benefit or risk? Recommendations of the nutrition committee of the Austrian Society for Pediatric and Adolescent Medicine (oGKJ)
Schneider, AM
MONATSSCHR KINDERH. 2021;
Originalarbeiten (Zeitschrift)
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.
Schröder, S; Li, Y; Yigit, G; Altmüller, J; Bader, I; Bevot, A; Biskup, S; Dreha-Kulaczewski, S; Christoph Korenke, G; Kottke, R; Mayr, JA; Preisel, M; Toelle, SP; Wente-Schulz, S; Wortmann, SB; Hahn, H; Boltshauser, E; Uhmann, A; Wollnik, B; Brockmann, K;
Genet Med. 2021; 23(2):341-351
Originalarbeiten (Zeitschrift)
The role of clinical response to treatment in determining pathogenicity of genomic variants.
Shen, JJ; Wortmann, SB; de Boer, L; Kluijtmans, LAJ; Huigen, MCDG; Koch, J; Ross, S; Collins, CD; van der Lee, R; van Karnebeek, CDM; Hegde, MR
Genet Med. 2021; 23(3):581-585
Fallberichte
Response to Biesecker et al.
Shen, JJ; Wortmann, SB; Kluijtmans, LAJ; Collins, CD; van der Lee, R; van Karnebeek, CDM; Hegde, MR;
Genet Med. 2021; 23(4):793-794
Author reply
Current knowledge, challenges and innovations in developmental pharmacology: A combined conect4children Expert Group and European Society for Developmental, Perinatal and Paediatric Pharmacology White Paper
Smits, A; Annaert, P; Cavallaro, G; De Cock, PAJG; de Wildt, SN; Kindblom, JM; Lagler, FB; Moreno, C; Pokorna, P; Schreuder, MF; Standing, JF; Turner, MA; Vitiello, B; Zhao, W; Weingberg, AM; Willmann, R; van den Anker, J; Allegaert, K
BRIT J CLIN PHARMACO. 2021;
Übersichtsarbeiten
Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families.
Spenger, J; Maier, EM; Wechselberger, K; Bauder, F; Kocher, M; Sperl, W; Preisel, M; Schiergens, KA; Konstantopoulou, V; Roschinger, W; Haberle, J; Schmitt-Mechelke, T; Wortmann, SB; Fingerhut, R
INT J NEONAT SCREEN. 2021; 7(2):
Fallberichte
Molecular pediatrics
Sperl, W
MONATSSCHR KINDERH. 2021; 169(9): 788-790.
Editorials
Thinness, overweight, and obesity in 6- to 9-year-old children from 36 countries: The World Health Organization European Childhood Obesity Surveillance Initiative-COSI 2015-2017.
Spinelli, A; Buoncristiano, M; Nardone, P; Starc, G; Hejgaard, T; Juliusson, PB; Fismen, AS; Weghuber, D; Milanovic, SM; Garcia-Solano, M; Rutter, H; Rakovac, I; Cucu, A; Brinduse, LA; Rito, AI; Kovacs, VA; Heinen, MM; Nurk, E; Maki, P; Abdrakhmanova, S; Rakhmatulleoeva, S; Duleva, V; SantxxxAngelo, VF; Fijalkowska, A; Gualtieri, A; Sacchini, E; Hassapidou, M; Hyska, J; Kelleher, CC; Kujundzic, E; Kunesova, M; Ioannidou, EM; Ostojic, SM; Peterkova, V; Petrauskiene, A; Popovic, S; Pudule, I; Jonsson, KR; Dal-Re Saavedra, MA; Salanave, B; Shengelia, L; Spiroski, I; Tanrygulyyeva, M; Ticha, L; Usupova, Z; Ozcebe, LH; Abildina, A; Schindler, K; Weber, MW; Hadziomeragic, AF; Melkumova, M; Stojisavljevic, D; Boymatova, K; Williams, J; Breda, J
OBES REV. 2021; 22 Suppl 6: e13214
Originalarbeiten (Zeitschrift)
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.
Stenton, SL; Piekutowska-Abramczuk, D; Kulterer, L; Kopajtich, R; Claeys, KG; Ciara, E; Eisen, J; Płoski, R; Pronicka, E; Malczyk, K; Wagner, M; Wortmann, SB; Prokisch, H;
Hum Mutat. 2021; 42(3):310-319
Originalarbeiten (Zeitschrift)
Impaired complex I repair causes recessive Leber?s hereditary optic neuropathy Sarah L. Stenton, ... , Ilka Wittig, Holger Prokisch ...
Stenton, SL; Sheremet, NL; Catarino, CB; Andreeva, NA; Assouline, Z; Barboni, P; Barel, O; Berutti, R; Bychkov, I; Caporali, L; Capristo, M; Carbonelli, M; Cascavilla, ML; Issa, PC; Freisinger, P; Gerber, S; Ghezzi, D; Graf, E; Heidler, J; Hempel, M; Heon, E; Itkis, YS; Javasky, E; Kaplan, J; Kopajtich, R; Kornblum, C; Kovacs-Nagy, R; Krylova, TD; Kunz, WS; La Morgia, C; Lamperti, C; Ludwig, C; Malacarne, PF; Maresca, A; Mayr, JA; Meisterknecht, J; Nevinitsyna, TA; Palombo, F; Ben Pode-Shakked; Shmelkova, MS; Strom, TM; Tagliavini, F; Tzadok, M; van der Ven, AT; Vignal-Clermont, C; Wagner, M; Zakharova, EY; Zhorzholadze, NV; Rozet, JM; Carelli, V; Tsygankova, PG; Klopstock, T; Wittig, I; Prokisch, H
J CLIN INVEST. 2021; 131(6): e138267
Originalarbeiten (Zeitschrift)
Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations.
Stevelink, R; Luykx, JJ; Lin, BD; Leu, C; Lal, D; Smith, AW; Schijven, D; Carpay, JA; Rademaker, K; Rodrigues Baldez, RA; Devinsky, O; Braun, KPJ; Jansen, FE; Smit, DJA; Koeleman, BPC;
Epilepsia. 2021; 62(7): 1518-1527.
Originalarbeiten (Zeitschrift)
Prescription patterns of antiseizure drugs in tuberous sclerosis complex (TSC)-associated epilepsy: a multicenter cohort study from Germany and review of the literature.
Strzelczyk, A; Grau, J; Bast, T; Bertsche, A; Bettendorf, U; Hahn, A; Hartmann, H; Hertzberg, C; Hornemann, F; Immisch, I; Jacobs, J; Klotz, KA; Kluger, G; Knake, S; Knuf, M; Kurlemann, G; Marquard, K; Mayer, T; Meyer, S; Muhle, H; Muller-Schluter, K; von Podewils, F; Rosenow, F; Ruf, S; Sauter, M; Schafer, H; Schlump, JU; Schubert-Bast, S; Syrbe, S; Thiels, C; Trollmann, R; Wiemer-Kruel, A; Wilken, B; Zukunft, B; Zollner, JP
Expert Rev Clin Pharmacol. 2021; 14(6):749-760
Übersichtsarbeiten
Efficacy, tolerability, and retention of fenfluramine for the treatment of seizures in patients with Dravet syndrome: Compassionate use program in Germany.
Strzelczyk, A; Pringsheim, M; Mayer, T; Polster, T; Klotz, KA; Muhle, H; Alber, M; Trollmann, R; Spors, H; Kluger, G; Kurlemann, G; Schubert-Bast, S
Epilepsia. 2021; 62(10):2518-2527
Originalarbeiten (Zeitschrift)
A new ketogenic formulation improves functional outcome and reduces tissue loss following traumatic brain injury in adult mice
Thau-Zuchman, O; Svendsen, L; Dyall, SC; Paredes-Esquivel, U; Rhodes, M; Priestley, JV; Feichtinger, RG; Kofler, B; Lotstra, S; Verkuyl, JM; Hageman, RJ; Broersen, LM; van Wijk, N; Silva, JP; Tremoleda, JL; Michael-Titus, AT
THERANOSTICS. 2021; 11(1): 346-360.
Originalarbeiten (Zeitschrift)
PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
Tremblay-Laganière, C; Maroofian, R; Nguyen, TTM; Karimiani, EG; Kirmani, S; Akbar, F; Ibrahim, S; Afroze, B; Doosti, M; Ashrafzadeh, F; Babaei, M; Efthymiou, S; Christoforou, M; Sultan, T; Ladda, RL; McLaughlin, HM; Truty, R; Mahida, S; Cohen, JS; Baranano, K; Ismail, FY; Patel, MS; Lehman, A; Edmondson, AC; Nagy, A; Walker, MA; Mercimek-Andrews, S; Maki, Y; Sachdev, R; Macintosh, R; Palmer, EE; Mancini, GMS; Barakat, TS; Steinfeld, R; Rüsch, CT; Stettner, GM; Wagner, M; Wortmann, SB; Kini, U; Brady, AF; Stals, KL; Ismayilova, N; Ellard, S; Bernardo, D; Nugent, K; McLean, SD; Antonarakis, SE; Houlden, H; Kinoshita, T; Campeau, PM; Murakami, Y;
Genet Med. 2021; 23(10):1873-1881
Originalarbeiten (Zeitschrift)
Implementation of a Low-Carbohydrate Diet Improves the Quality of Life of Cancer Patients - An Online Survey
Tulipan, J; Kofler, B
FRONT NUTR. 2021; 8: 661253
Originalarbeiten (Zeitschrift)
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort.
van der Ven, AT; Johannsen, J; Kortüm, F; Wagner, M; Tsiakas, K; Bierhals, T; Lessel, D; Herget, T; Kloth, K; Lisfeld, J; Scholz, T; Obi, N; Wortmann, S; Prokisch, H; Kubisch, C; Denecke, J; Santer, R; Hempel, M;
Clin Genet. 2021; 100(6): 766-770.
Originalarbeiten (Zeitschrift)
Benefit-Risk Assessment of Off-Label Drug Use in Children: The Bravo Framework
van der Zanden, TM; Mooij, MG; Vet, NJ; Neubert, A; Rascher, W; Lagler, FB; Male, C; Grytli, H; Halvorsen, T; de Hoog, M; de Wildt, SN
CLIN PHARMACOL THER. 2021;
Originalarbeiten (Zeitschrift)
Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app.
van Konijnenburg, EMMH; Wortmann, SB; Koelewijn, MJ; Tseng, LA; Houben, R; Stockler-Ipsiroglu, S; Ferreira, CR; van Karnebeek, CDM
ORPHANET J RARE DIS. 2021; 16(1): 170
Übersichtsarbeiten
Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes.
Vidali, S; Gerlini, R; Thompson, K; Urquhart, JE; Meisterknecht, J; Aguilar-Pimentel, JA; Amarie, OV; Becker, L; Breen, C; Calzada-Wack, J; Chhabra, NF; Cho, YL; da Silva-Buttkus, P; Feichtinger, RG; Gampe, K; Garrett, L; Hoefig, KP; Holter, SM; Jameson, E; Klein-Rodewald, T; Leuchtenberger, S; Marschall, S; Mayer-Kuckuk, P; Miller, G; Oestereicher, MA; Pfannes, K; Rathkolb, B; Rozman, J; Sanders, C; Spielmann, N; Stoeger, C; Szibor, M; Treise, I; Walter, JH; Wurst, W; Mayr, JA; Fuchs, H; Gartner, U; Wittig, I; Taylor, RW; Newman, WG; Prokisch, H; Gailus-Durner, V; de Angelis, MH
EMBO MOL MED. 2021; 13(12): e14397
Originalarbeiten (Zeitschrift)
Genetic epilepsies in childhood Exact molecular diagnosis as basis of an individual treatment?
von Stulpnagel, C; Kluger, G
MONATSSCHR KINDERH. 2021;
Originalarbeiten (Zeitschrift)
Childhood Stroke: Long-Term Outcomes and Health-Related Quality of Life with a Special Focus on the Development of Epilepsy.
von Stulpnagel, C; Kutschker, S; Sperl, W; Berweck, S; Staudt, M; Berndt, M; Kluger, G
NEUROPEDIATRICS. 2021; 52(6): 469-474.
Originalarbeiten (Zeitschrift)
Training of basic resuscitation measures (newborn life support, paediatric basic life support) Position paper of the working group Paediatric Simulation and Patient Safety of the Austrian Society of Paediatrics and Adolescent Medicine (oGKJ)
Wagner, M; Mileder, LP; Aspalter, G; Bachmann, A; Berger, R; Bibl, K; Cardona, FS; Csomor, D; Dau, C; Hofer, D; Minkov, M; Schwindt, E; Sohm, M; Steinbauer, P; Stocker, S; Wald, M; Weisser, C; Werther, T; Schmolzer, GM
MONATSSCHR KINDERH. 2021;
Originalarbeiten (Zeitschrift)
Epigenetic and metabolic regulation of epidermal homeostasis.
Wagner, RN; Piñón Hofbauer, J; Wally, V; Kofler, B; Schmuth, M; De Rosa, L; De Luca, M; Bauer, JW;
Exp Dermatol. 2021; 30(8): 1009-1022.
Übersichtsarbeiten
Constant or variable flow nCPAP devices.
Wald, M;
ARCHIVES OF DISEASE IN CHILDHOOD . 2021;
News-Items
Targeted Metabolomics Identifies Plasma Biomarkers in Mice with Metabolically Heterogeneous Melanoma Xenografts.
Weber, DD; Thapa, M; Aminzadeh-Gohari, S; Redtenbacher, AS; Catalano, L; Feichtinger, RG; Koelblinger, P; Dallmann, G; Emberger, M; Kofler, B; Lang, R;
Cancers (Basel). 2021; 13(3):
Originalarbeiten (Zeitschrift)
Physical Activity, Screen Time, and Sleep Duration of Children Aged 6-9 Years in 25 Countries: An Analysis within the WHO European Childhood Obesity Surveillance Initiative (COSI) 2015-2017.
Whiting, S; Buoncristiano, M; Gelius, P; Abu-Omar, K; Pattison, M; Hyska, J; Duleva, V; Musić Milanović, S; Zamrazilová, H; Hejgaard, T; Rasmussen, M; Nurk, E; Shengelia, L; Kelleher, CC; Heinen, MM; Spinelli, A; Nardone, P; Abildina, A; Abdrakhmanova, S; Aitmurzaeva, G; Usuopva, Z; Pudule, I; Petrauskiene, A; SantAngelo, VF; Kujundzic, E; Popovic, S; Fismen, AS; Bergh, IH; Fijalkowska, A; Rito, AI; Cucu, A; Brinduse, LA; Peterkova, V; Gualtieri, A; García-Solano, M; Gutiérrez-González, E; Abdurrahmonova, Z; Boymatova, K; Yardim, N; Tanrygulyyeva, M; Weghuber, D; Schindler, K; Stojisavljević, D; Filipović Hadžiomeragić, A; Markidou Ionnaidu, E; Ahrens, W; Hassapidou, M; Kovacs, VA; Ostojic, SM; Ticha, L; Starc, G; Russell Jonsson, K; Spiroski, I; Rutter, H; Mendes, R; Williams, J; Rakovac, I; Breda, J;
Obes Facts. 2021; 14(1):32-44
Originalarbeiten (Zeitschrift)
Efficacy, Retention and Tolerability of Everolimus in Patients with Tuberous Sclerosis Complex: A Survey-Based Study on Patients" Perspectives.
Willems, LM; Rosenow, F; Schubert-Bast, S; Kurlemann, G; Zollner, JP; Bast, T; Bertsche, A; Bettendorf, U; Ebrahimi-Fakhari, D; Grau, J; Hahn, A; Hartmann, H; Hertzberg, C; Hornemann, F; Immisch, I; Jacobs, J; Klein, KM; Klotz, KA; Kluger, G; Knake, S; Knuf, M; Marquard, K; Mayer, T; Meyer, S; Muhle, H; Muller-Schluter, K; von Podewils, F; Ruf, S; Sauter, M; Schafer, H; Schlump, JU; Syrbe, S; Thiels, C; Trollmann, R; Wiemer-Kruel, A; Wilken, B; Zukunft, B; Strzelczyk, A
CNS DRUGS. 2021; 35(10): 1107-1122.
Originalarbeiten (Zeitschrift)
Health-related quality of life in children and adolescents with tuberous sclerosis complex and their caregivers: A multicentre cohort study from Germany.
Willems, LM; Schubert-Bast, S; Grau, J; Hertzberg, C; Kurlemann, G; Wiemer-Kruel, A; Bast, T; Bertsche, A; Bettendorf, U; Fiedler, B; Hahn, A; Hartmann, H; Hornemann, F; Immisch, I; Jacobs, J; Kieslich, M; Klein, KM; Klotz, KA; Kluger, G; Knuf, M; Mayer, T; Marquard, K; Meyer, S; Muhle, H; Muller-Schluter, K; Noda, AH; Ruf, S; Sauter, M; Schlump, JU; Syrbe, S; Thiels, C; Trollmann, R; Wilken, B; Zollner, JP; Rosenow, F; Strzelczyk, A
EUR J PAEDIATR NEURO. 2021; 35: 111-122.
Originalarbeiten (Zeitschrift)
Next Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size Matters.
Willimsky, EK; Munzig, A; Mayer, K; Biskup, S; Abicht, A; Hoertnagel, K; von Voss, H; Klein, HG; Rost, I; Larsen, LHG; Dahl, HA; Hoelz, H; von Stuelpnagel, C; Borggraefe, I
Neuropediatrics. 2021; 52(2):92-97
Originalarbeiten (Zeitschrift)
History of Repeated Bleeding from Intact Skin and Mucous Membranes: A Quiz.
Wortmann, S; Welponer, T; Laimer, M;
Acta Derm Venereol. 2021; 101(11):adv00592
Fallberichte
Multidisciplinary diagnostics of developmental disorders: basis for personalized precision medicine The "groundhog" consultation
Wortmann, SB; Preisel, M; Feichtinger, RG; Floride, E; Koch, J; Kleber, N; Kranewitter, K; Rauscher, C; Spenger, J; Steinbrucker, K; Sperl, W; Weghuber, D; Mayr, JA
MONATSSCHR KINDERH. 2021;
Originalarbeiten (Zeitschrift)
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.
Wortmann, SB; Ziętkiewicz, S; Guerrero-Castillo, S; Feichtinger, RG; Wagner, M; Russell, J; Ellaway, C; Mróz, D; Wyszkowski, H; Weis, D; Hannibal, I; von Stülpnagel, C; Cabrera-Orefice, A; Lichter-Konecki, U; Gaesser, J; Windreich, R; Myers, KC; Lorsbach, R; Dale, RC; Gersting, S; Prada, CE; Christodoulou, J; Wolf, NI; Venselaar, H; Mayr, JA; Wevers, RA;
Genet Med. 2021; 23(9): 1705-1714.
Originalarbeiten (Zeitschrift)
Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.
Wortmann, SB; Ziętkiewicz, S; Guerrero-Castillo, S; Feichtinger, RG; Wagner, M; Russell, J; Ellaway, C; Mróz, D; Wyszkowski, H; Weis, D; Hannibal, I; von Stülpnagel, C; Cabrera-Orefice, A; Lichter-Konecki, U; Gaesser, J; Windreich, R; Myers, KC; Lorsbach, R; Dale, RC; Gersting, S; Prada, CE; Christodoulou, J; Wolf, NI; Venselaar, H; Mayr, JA; Wevers, RA;
Genet Med. 2021; 23(9):1789
Korrekturen
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.
Yap, ZY; Park, YH; Wortmann, SB; Gunning, AC; Ezer, S; Lee, S; Duraine, L; Wilichowski, E; Wilson, K; Mayr, JA; Wagner, M; Li, H; Kini, U; Black, ED; Monaghan, KG; Lupski, JR; Ellard, S; Westphal, DS; Harel, T; Yoon, WH;
Genome Med. 2021; 13(1): 55
Originalarbeiten (Zeitschrift)
Cystic Fibrosis Newborn Screening in Austria Using PAP and the Numeric Product of PAP and IRT Concentrations as Second-Tier Parameters.
Zeyda, M; Schanzer, A; Basek, P; Bauer, V; Eber, E; Ellemunter, H; Kallinger, M; Riedler, J; Thir, C; Wadlegger, F; Zacharasiewicz, A; Renner, S;
Diagnostics (Basel). 2021; 11(2):
Originalarbeiten (Zeitschrift)
Long-term experience with triheptanoin in 12 Austrian patients with long-chain fatty acid oxidation disorders
Zoggeler, T; Stock, K; Jorg-Streller, M; Spenger, J; Konstantopoulou, V; Hufgard-Leitner, M; Scholl-Burgi, S; Karall, D
ORPHANET J RARE DIS. 2021; 16(1): 28
Originalarbeiten (Zeitschrift)
Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety.
Zweers, H; van Wegberg, AMJ; Janssen, MCH; Wortmann, SB
ORPHANET J RARE DIS. 2021; 16(1): 295
Übersichtsarbeiten
Correction to: Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety.
Zweers, H; van Wegberg, AMJ; Janssen, MCH; Wortmann, SB
Orphanet J Rare Dis. 2021; 16(1):397
Korrekturen
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.

Am J Hum Genet. 2021; 108(10):2024
Korrekturen

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EPILEPSIA. 2021; 62: 34-36.
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New-onset refractory status epilepticus (NORSE) and febrile infection-related epilepsy syndrome (FIRES): More differences than similarities
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EPILEPSIA. 2021; 62: 341-341.
Abstracts (Zeitschrift)
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EPILEPSIA. 2021; 62: 352-352.
Abstracts (Zeitschrift)
Direct and indirect costs and cost drivers of Tuberous sclerosis complex in children, adolescents, and caregivers: A multicenter cohort study
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EPILEPSIA. 2021; 62: 304-305.
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Metabolic reprogramming related to whole-chromosome instability in models for Hürthle cell carcinoma.
Addie, RD; Kostidis, S; Corver, WE; Oosting, J; Aminzadeh-Gohari, S; Feichtinger, RG; Kofler, B; Aydemirli, MD; Giera, M; Morreau, H;
Sci Rep. 2020; 10(1): 9578
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Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.
Alston, CL; Veling, MT; Heidler, J; Taylor, LS; Alaimo, JT; Sung, AY; He, L; Hopton, S; Broomfield, A; Pavaine, J; Diaz, J; Leon, E; Wolf, P; McFarland, R; Prokisch, H; Wortmann, SB; Bonnen, PE; Wittig, I; Pagliarini, DJ; Taylor, RW;
Am J Hum Genet. 2020; 106(1): 92-101.
Originalarbeiten (Zeitschrift)
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Aminzadeh-Gohari, S; Weber, DD; Catalano, L; Feichtinger, RG; Kofler, B; Lang, RD
BIOMOLECULES. 2020; 10(10):
Originalarbeiten (Zeitschrift)
From old to new - Repurposing drugs to target mitochondrial energy metabolism in cancer.
Aminzadeh-Gohari, S; Weber, DD; Vidali, S; Catalano, L; Kofler, B; Feichtinger, RG;
Semin Cell Dev Biol. 2020; 98:211-223
Übersichtsarbeiten
Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report.
Bader, I; McTiernan, N; Darbakk, C; Boltshauser, E; Ree, R; Ebner, S; Mayr, JA; Arnesen, T
BMC MED GENET. 2020; 21(1): 153
Fallberichte
Correlates of intellectual development before and after hemispherotomy: an analysis of 75 children and adolescents.
Bajer, C; Hofer, W; Pieper, T; Kudernatsch, M; Holthausen, H; Staudt, M
EPILEPTIC DISORD. 2020; 22(5): 571-581.
Originalarbeiten (Zeitschrift)
Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration.
Belohlavkova, A; Sterbova, K; Betzler, C; Burkhard, S; Panzer, A; Wolff, M; Lassuthova, P; Vlckova, M; Kyncl, M; Benova, B; Jahodova, A; Kudr, M; Goerg, M; Dusek, P; Seeman, P; Kluger, G; Krsek, P
EUR J PAEDIATR NEURO. 2020; 28: 81-88.
Originalarbeiten (Zeitschrift)
Sudden unexpected death in epilepsy (SUDEP) in children and adolescents-numbers, data and facts
Borusiak, P; Bast, T; Bettendorf, U; Freitag, H; Haberlandt, E; Kluger, G; Springer, S; Wiegand, G
Z EPILEPTOL. 2020;
Übersichtsarbeiten
Digital Food Marketing to Young People: A Substantial Public Health Challenge.
Boyland, E; Thivel, D; Mazur, A; Ring-Dimitriou, S; Frelut, ML; Weghuber, D;
Ann Nutr Metab. 2020; 76(1): 6-9.
Editorials
Normal fetal lung development in a singleton child with bilateral renal agenesis-a paradox?
Brandner, J; Wald, M; Auer-Hackenberg, L; Huber-Katamay, J; Fazelnia, C; Edelbauer-Wechselberger, M
GYNAKOLOGE. 2020;
Fallberichte
Simulation Training to Improve Informed Consent and Pharmacokinetic/Pharmacodynamic Sampling in Pediatric Trials.
Burckhardt, BB; Ciplea, AM; Laven, A; Ablonczy, L; Klingmann, I; Laer, S; Kleine, K; Dalinghaus, M; Dukic, M; Breur, JMPJ; Van der Meulen, M; Swoboda, V; Schwender, H; Lagler, FB
FRONT PHARMACOL. 2020; 11: 603042
Originalarbeiten (Zeitschrift)
Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.
Conte, F; Morava, E; Bakar, NA; Wortmann, SB; Poerink, AJ; Grunewald, S; Crushell, E; Al-Gazali, L; de Vries, MC; Mørkrid, L; Hertecant, J; Brocke Holmefjord, KS; Kronn, D; Feigenbaum, A; Fingerhut, R; Wong, SY; van Scherpenzeel, M; Voermans, NC; Lefeber, DJ;
Mol Genet Metab. 2020; 131(1-2): 135-146.
Originalarbeiten (Zeitschrift)
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
Del Dotto, V; Ullah, F; Di Meo, I; Magini, P; Gusic, M; Maresca, A; Caporali, L; Palombo, F; Tagliavini, F; Baugh, EH; Macao, B; Szilagyi, Z; Péron, C; Gustafson, MA; Khan, K; La Morgia, C; Barboni, P; Carbonelli, M; Valentino, ML; Liguori, R; Shashi, V; Sullivan, JA; Nagaraj, S; El-Dairi, M; Iannaccone, A; Cutcutache, I; Bertini, E; Carrozzo, R; Emma, F; Diomedi-Camassei, F; Zanna, C; Armstrong, M; Page, MJ; Boesch, S; Wortmann, SB; Kopajtich, R; Stong, N; Sperl, W; Davis, E; Copeland, WC; Seri, M; Falkenberg, M; Prokisch, H; Katsanis, N; Tiranti, V; Pippucci, T; Carelli, V;
J Clin Invest. 2020; 130(1):108-125
Originalarbeiten (Zeitschrift)
Ketogenic diet for treating alopecia in BCS1l-related mitochondrial disease (Bjornstad syndrome).
Della Marina, A; Leiendecker, B; Roesch, S; Wortmann, SB;
JIMD Rep. 2020; 53(1): 10-11.
Fallberichte
Dietary implications for ASA intolerance
Dolle-Bierke, S; Plank-Habibi, S; Schafer, C; Ahrens, B; Ballmer-Weber, B; Beyer, K; Blumchen, K; Huttegger, I; Jappe, U; Kleine-Tebbe, J; Lange, L; Lau, S; Lepp, U; Mahler, V; Muller, S; Saloga, J; Schnadt, S; Szepfalusi, Z; Treudler, R; Wassmann-Otto, A; Werfel, T; Zuberbier, T; Reese, I; Worm, M
ALLERGO J. 2020; 29(4): 28-31.
Originalarbeiten (Zeitschrift)
The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood.
Doring, JH; Saffari, A; Bast, T; Brockmann, K; Ehrhardt, L; Fazeli, W; Janzarik, WG; Kluger, G; Muhle, H; Moller, RS; Platzer, K; Santos, JL; Bache, I; Bertsche, A; Bonfert, M; Borggrafe, I; Broser, PJ; Datta, AN; Hammer, TB; Hartmann, H; Hasse-Wittmer, A; Henneke, M; Kuhne, H; Lemke, JR; Maier, O; Matzker, E; Merkenschlager, A; Opp, J; Patzer, S; Rostasy, K; Stark, B; Strzelczyk, A; von Stulpnagel, C; Weber, Y; Wolff, M; Zirn, B; Hoffmann, GF; Kolker, S; Syrbe, S
Biomedicines. 2020; 8(11):
Originalarbeiten (Zeitschrift)
Paediatric obesity and brain functioning: The role of physical activity-A novel and important expert opinion of the European Childhood Obesity Group.
Esteban-Cornejo, I; Reilly, J; Ortega, F; Matusik, P; Mazur, A; Erhardt, E; Forslund, A; Vlachopapadopoulou, EA; Caroli, M; Boyland, E; Weghuber, D; Thivel, D
PEDIATR OBES. 2020; 15(9): e12649
Originalarbeiten (Zeitschrift)
Galanin System in Human Glioma and Pituitary Adenoma.
Falkenstetter, S; Leitner, J; Brunner, SM; Rieder, TN; Kofler, B; Weis, S;
Front Endocrinol (Lausanne). 2020; 11: 155
Originalarbeiten (Zeitschrift)
ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response.
Gasser, M; Boonsimma, P; Netbaramee, W; Wechapinan, T; Srichomthomg, C; Ittiwut, C; Krenn, M; Zimprich, F; Milenkovic, I; Abicht, A; Biskup, S; Roser, T; Shotelersuk, V; Tacke, M; Kuersten, M; Wagner, M; Borggraefe, I; Suphapeetiporn, K; von Stülpnagel, C;
J Clin Neurosci. 2020; 72:31-38
Originalarbeiten (Zeitschrift)
Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib.
Grunert, SC; Elling, R; Maag, B; Wortmann, SB; Derks, TGJ; Hannibal, L; Schumann, A; Rosenbaum-Fabian, S; Spiekerkoetter, U
ORPHANET J RARE DIS. 2020; 15(1): 218
Fallberichte
Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.
Gusic, M; Schottmann, G; Feichtinger, RG; Du, C; Scholz, C; Wagner, M; Mayr, JA; Lee, CY; Yépez, VA; Lorenz, N; Morales-Gonzalez, S; Panneman, DM; Rötig, A; Rodenburg, RJT; Wortmann, SB; Prokisch, H; Schuelke, M;
Am J Hum Genet. 2020; 106(1): 102-111.
Originalarbeiten (Zeitschrift)
Parenteral nutrition of preterm and term infants, children and adolescents Consensus paper based on the guidelines of the ESPGHAN, ESPEN, ESPR and CSPEN
Haiden, N
MONATSSCHR KINDERH. 2020; 168(7): 634-643.
Originalarbeiten (Zeitschrift)
How to Feed the Fetus.
Haschke, F;
Ann Nutr Metab. 2020; 76 Suppl 3: 1-2.
Editorials
Dog-Assisted Therapy in Neurorehabilitation of Children with Severe Neurological Impairment: An Explorative Study.
Hediger, K; Boek, F; Sachers, J; Blankenburg, U; Antonius-Kluger, E; Rist, B; Schaudek, M; Staudt, M; Kluger, G
NEUROPEDIATRICS. 2020; 51(4): 267-274.
Originalarbeiten (Zeitschrift)
Stability of 0.5% Glucose-Containing Balanced Electrolyte Solutions for Patients on Ketogenic Diets: A Laboratory Study.
Heiderich, S; Dennhardt, N; Hartmann, H; Kluger, GJ; Sümpelmann, R; Herberhold, T;
Neuropediatrics. 2020; 51(6):397-400
Originalarbeiten (Zeitschrift)
Whole-exome and HLA sequencing in Febrile infection-related epilepsy syndrome.
Helbig, I; Barcia, G; Pendziwiat, M; Ganesan, S; Mueller, SH; Helbig, KL; Vaidiswaran, P; Xian, JL; Galer, PD; Afawi, Z; Specchio, N; Kluger, G; Kuhlenbaumer, G; Appenzeller, S; Wittig, M; Kramer, U; van Baalen, A; Nabbout, R
Ann Clin Transl Neurol. 2020; 7(8):1429-1435
Originalarbeiten (Zeitschrift)
Impact on Clinical Decision Making of Next-Generation Sequencing in Pediatric Epilepsy in a Tertiary Epilepsy Referral Center.
Hoelz, H; Herdl, C; Gerstl, L; Tacke, M; Vill, K; von Stuelpnagel, C; Rost, I; Hoertnagel, K; Abicht, A; Hollizeck, S; Larsen, LHG; Borggraefe, I
Clin EEG Neurosci. 2020; 51(1):61-69
Originalarbeiten (Zeitschrift)
Cooccurrence of Two Different Genetic Diseases: A Case of Valproic Acid Hepatotoxicity in Nicolaides-Baraitser Syndrome (SMARCA2 Mutation)-Due to a POLG1-Related Effect?
Hofmeister, B; von Stülpnagel, C; Berweck, S; Abicht, A; Kluger, G; Weber, P;
Neuropediatrics. 2020; 51(1): 49-52.
Originalarbeiten (Zeitschrift)
Mutation of the
Hübers, A; Huppertz, HJ; Wortmann, SB; Kassubek, J;
Mov Disord Clin Pract. 2020; 7(1): 88-90.
Fallberichte
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
Husain, RA; Grimmel, M; Wagner, M; Hennings, JC; Marx, C; Feichtinger, RG; Saadi, A; Rostásy, K; Radelfahr, F; Bevot, A; Döbler-Neumann, M; Hartmann, H; Colleaux, L; Cordts, I; Kobeleva, X; Darvish, H; Bakhtiari, S; Kruer, MC; Besse, A; Ng, AC; Chiang, D; Bolduc, F; Tafakhori, A; Mane, S; Ghasemi Firouzabadi, S; Huebner, AK; Buchert, R; Beck-Woedl, S; Müller, AJ; Laugwitz, L; Nägele, T; Wang, ZQ; Strom, TM; Sturm, M; Meitinger, T; Klockgether, T; Riess, O; Klopstock, T; Brandl, U; Hübner, CA; Deschauer, M; Mayr, JA; Bonnen, PE; Krägeloh-Mann, I; Wortmann, SB; Haack, TB;
Am J Hum Genet. 2020; 107(2): 364-373.
Originalarbeiten (Zeitschrift)
Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches.
Illsinger, S; Korenke, GC; Boesch, S; Nocker, M; Karall, D; Nuoffer, JM; Laugwitz, L; Mayr, JA; Scholl-Bürgi, S; Freisinger, P; Kowald, T; Kölker, S; Prokisch, H; Haack, TB;
Eur J Med Genet. 2020; 63(11):104046
Originalarbeiten (Zeitschrift)
Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity
Jagle, S; Heeg, M; Grun, S; Rensing-Ehl, A; Maccari, ME; Klemann, C; Jones, N; Lehmberg, K; Bettoni, C; Warnatz, K; Grimbacher, B; Biebl, A; Schauer, U; Hague, R; Neth, O; Mauracher, A; Schmid, JP; Fabre, A; Kostyuchenko, L; Fuhrer, M; Lorenz, MR; Schwarz, K; Rohr, J; Ehl, S
CLIN IMMUNOL. 2020; 210: UNSP 108316
Originalarbeiten (Zeitschrift)
Recommendations for improving clinical trial design to facilitate the study of youth-onset type 2 diabetes.
Jalaludin, MY; Barrientos-Pérez, M; Hafez, M; Lynch, J; Shehadeh, N; Turan, S; Weghuber, D;
Clin Trials. 2020; 17(1):87-98
Originalarbeiten (Zeitschrift)
More Than 500 Kids Could Be Saved Each Year! Ten Consensus Actions to Improve Quality of Pediatric Resuscitation in DACH-Countries (Austria, Germany, and Switzerland).
Jung, P; Brenner, S; Bachmann, I; Both, C; Cardona, F; Dohna-Schwake, C; Eich, C; Eifinger, F; Huth, R; Heimberg, E; Landsleitner, B; Olivieri, M; Sasse, M; Weisner, T; Wagner, M; Warnke, G; Ziegler, B; Boettiger, BW; Nadkarni, V; Hoffmann, F;
Front Pediatr. 2020; 8: 549710
Originalarbeiten (Zeitschrift)
Ultra-Processed Food Consumption among the Paediatric Population: An Overview and Call to Action from the European Childhood Obesity Group.
Khandpur, N; Neri, DA; Monteiro, C; Mazur, A; Frelut, ML; Boyland, E; Weghuber, D; Thivel, D;
Ann Nutr Metab. 2020; 76(2): 109-113.
Editorials
Mosaic trisomy of chromosome 1q in human brain tissue associates with unilateral polymicrogyria, very early-onset focal epilepsy, and severe developmental delay.
Kobow, K; Jabari, S; Pieper, T; Kudernatsch, M; Polster, T; Woermann, FG; Kalbhenn, T; Hamer, H; Rossler, K; Muhlebner, A; Spliet, WGM; Feucht, M; Hou, YH; Stichel, D; Korshunov, A; Sahm, F; Coras, R; Blumcke, I; von Deimling, A
Acta Neuropathol. 2020; 140(6):881-891
Originalarbeiten (Zeitschrift)
Accuracy of Flash Glucose Monitoring in a Patient with Dravet Syndrome on a Ketogenic Diet
Kortas, A; Schiller, K; Unterholzner, G; Rauchenzauner, M
NEUROPEDIATRICS. 2020; 51(1): 45-48.
Fallberichte
Prevalence of prediabetes and type 2 diabetes in children with obesity and increased transaminases in European German-speaking countries. Analysis of the APV initiative.
Koutny, F; Weghuber, D; Bollow, E; Greber-Platzer, S; Hartmann, K; Körner, A; Reinehr, T; Roebl, M; Simic-Schleicher, G; Wabitsch, M; Widhalm, K; Wiegand, S; Holl, RW;
Pediatr Obes. 2020; 15(4):e12601
Originalarbeiten (Zeitschrift)
Antiepileptic therapy approaches in KCNQ2 related epilepsy: A systematic review.
Kuersten, M; Tacke, M; Gerstl, L; Hoelz, H; Stülpnagel, CV; Borggraefe, I;
Eur J Med Genet. 2020; 63(1): 103628
Übersichtsarbeiten
The Austrian Childrenxxxs Research Network Current successes and contributions to development of childrenxxxs medicines in Austria
Ladenstein, R; Mikolasek, A; Greber-Platzer, S; Thajer, X; Sperl, W; Lagler, F; H?gler, W; Eber, E; M?ller, T; Karall, D; Embacher-Aichhorn, S
PADIATR PADOL. 2020; 55(2): 90-92.
News-Items
Current and Emerging Therapies for Mitochondriopathies.
Lagler, FB;
Handb Exp Pharmacol. 2020; 261: 57-65.
Originalarbeiten (Zeitschrift)
Current and Emerging Therapies for Mucopolysaccharidoses.
Lagler, FB;
Handb Exp Pharmacol. 2020; 261: 39-56.
Originalarbeiten (Zeitschrift)
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1.
Lenz, D; Smith, DEC; Crushell, E; Husain, RA; Salomons, GS; Alhaddad, B; Bernstein, JA; Bianzano, A; Biskup, S; Brennenstuhl, H; Caldari, D; Dikow, N; Haack, TB; Hanson-Kahn, A; Harting, I; Horn, D; Hughes, J; Huijberts, M; Isidor, B; Kathemann, S; Kopajtich, R; Kotzaeridou, U; Kury, S; Lainka, E; Laugwitz, L; Lupski, JR; Posey, JE; Reynolds, C; Rosenfeld, JA; Schroter, J; Vansenne, F; Wagner, M; Weiss, C; Wolffenbuttel, BHR; Wortmann, SB; Kolker, S; Hoffmann, GF; Prokisch, H; Mendes, MI; Staufner, C
Genet Med. 2020; 22(11):1863-1873
Originalarbeiten (Zeitschrift)
The Influence of Ketogenic Diets on Psoriasiform-Like Skin Inflammation.
Locker, F; Leitner, J; Aminzadeh-Gohari, S; Weber, DD; Sanio, P; Koller, A; Feichtinger, RG; Weiss, R; Kofler, B; Lang, R;
J Invest Dermatol. 2020; 140(3):707-710.e7
Letter
Country-Specific Prevalence and Incidence of Youth-Onset Type 2 Diabetes: A Narrative Literature Review.
Lynch, JL; Barrientos-Pérez, M; Hafez, M; Jalaludin, MY; Kovarenko, M; Rao, PV; Weghuber, D;
Ann Nutr Metab. 2020; 76(5):289-296
Übersichtsarbeiten
Vitamin D: Synergien mit Vitamin K2 – was ist dran?
Marx, G; Schneider, AM; Weghuber, D;
Pädiatrische Praxis - Zeitschrift für Kinder- und Jugendmedizin in Klinik und Praxis. 2020; 94(2): 1-6.
Übersichtsarbeiten
Presurgical Language fMRI in Children, Adolescents and Young Adults : A Validation Study.
Meinhold, T; Hofer, W; Pieper, T; Kudernatsch, M; Staudt, M;
Clin Neuroradiol. 2020; 30(4):691-704
Originalarbeiten (Zeitschrift)
Cognitive performance and behavior across idiopathic/genetic epilepsies in children and adolescents.
Moorhouse, FJ; Cornell, S; Gerstl, L; Tacke, M; Roser, T; Heinen, F; Bonfert, M; von Stülpnagel, C; Wagner, M; Borggraefe, I;
Sci Rep. 2020; 10(1): 21543
Originalarbeiten (Zeitschrift)
Serum Ferritin Correlates With Liver Fat in Male Adolescents With Obesity.
Mörwald, K; Aigner, E; Bergsten, P; Brunner, SM; Forslund, A; Kullberg, J; Ahlström, H; Manell, H; Roomp, K; Schütz, S; Zsoldos, F; Renner, W; Furthner, D; Maruszczak, K; Zandanell, S; Weghuber, D; Mangge, H;
Front Endocrinol (Lausanne). 2020; 11: 340
Originalarbeiten (Zeitschrift)
CLPB (caseinolytic peptidase B homolog), the first mitochondrial protein refoldase associated with human disease.
Mróz, D; Wyszkowski, H; Szablewski, T; Zawieracz, K; Dutkiewicz, R; Bury, K; Wortmann, SB; Wevers, RA; Ziętkiewicz, S;
Biochim Biophys Acta Gen Subj. 2020; 1864(4): 129512
Originalarbeiten (Zeitschrift)
Height and body-mass index trajectories of school-aged children and adolescents from 1985 to 2019 in 200 countries and territories: a pooled analysis of 2181 population-based studies with 65 million participants.
NCD Risk Factor Collaboration (NCD-RisC)
Lancet. 2020; 396(10261): 1511-1524.
Originalarbeiten (Zeitschrift)
Sacrificing one visual hemifield during pediatric epilepsy surgery: Effects on visual search.
Neumayr, L; Gschaidmeier, A; Trauzettel-Klosinski, S; Pieper, T; Kudernatsch, M; Hofer, W; Bajer, C; Staudt, M
EUR J PAEDIATR NEURO. 2020; 29: 103-107.
Originalarbeiten (Zeitschrift)
Uncovering homonymous visual field defects in candidates for pediatric epilepsy surgery.
Neumayr, L; Pieper, T; Kudernatsch, M; Trauzettel-Klosinski, S; Staudt, M;
EUR J PAEDIATR NEURO. 2020; 25: 165-171.
Originalarbeiten (Zeitschrift)
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects.
Niestroj, LM; Perez-Palma, E; Howrigan, DP; Zhou, Y; Cheng, F; Saarentaus, E; Nürnberg, P; Stevelink, R; Daly, MJ; Palotie, A; Lal, D;
Brain. 2020; 143(7): 2106-2118.
Originalarbeiten (Zeitschrift)
Mitochondrial energy metabolism is negatively regulated by cannabinoid receptor 1 in intact human epidermis.
Olah, A; Alam, M; Cheret, J; Kis, NG; Hegyi, Z; Szollosi, AG; Vidali, S; Biro, T; Paus, R
Exp Dermatol. 2020; 29(7):616-622
Originalarbeiten (Zeitschrift)
Changes in the expression of oxidative phosphorylation complexes in the aging intestinal mucosa.
Özsoy, M; Zimmermann, FA; Feichtinger, RG; Mayr, JA; Kofler, B; Neureiter, D; Klieser, E; Schütz, S; Weghuber, D; Schneider, AM;
Exp Gerontol. 2020; 135:110924
Originalarbeiten (Zeitschrift)
Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.
Panneman, DM; Wortmann, SB; Haaxma, CA; van Hasselt, PM; Wolf, NI; Hendriks, Y; Küsters, B; van Emst-de Vries, S; van de Westerlo, E; Koopman, WJH; Wintjes, L; van den Brandt, F; de Vries, M; Lefeber, DJ; Smeitink, JAM; Rodenburg, RJ;
Clin Genet. 2020; 97(4):556-566
Originalarbeiten (Zeitschrift)
Distinct maternal amino acids and oxylipins predict infant fat mass and fat-free mass indices.
Riederer, M; Wallner, M; Schweighofer, N; Fuchs-Neuhold, B; Rath, A; Berghold, A; Eberhard, K; Groselj-Strele, A; Staubmann, W; Peterseil, M; Waldner, I; Mayr, JA; Rothe, M; Holasek, S; Maunz, S; Pail, E; van der Kleyn, M;
Arch Physiol Biochem. 2020; 1-12
Originalarbeiten (Zeitschrift)
[Molecular and functional testing in case of hereditary hearing loss associated with the SLC26A4 gene].
Roesch, S; Bernardinelli, E; Wortmann, S; Mayr, JA; Bader, I; Schweighofer-Zwink, G; Rasp, G; Dossena, S;
Laryngorhinootologie. 2020; 99(12): 853-862.
Übersichtsarbeiten
Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in Newborns.
Rozmaric, T; Mitulovic, G; Konstantopoulou, V; Goeschl, B; Huemer, M; Plecko, B; Spenger, J; Wortmann, SB; Scholl-Burgi, S; Karall, D; Greber-Platzer, S; Zeyda, M
DIAGNOSTICS. 2020; 10(9):
Originalarbeiten (Zeitschrift)
Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation.
Rymen, D; Lindhout, M; Spanou, M; Ashrafzadeh, F; Benkel, I; Betzler, C; Coubes, C; Hartmann, H; Kaplan, JD; Ballhausen, D; Koch, J; Lotte, J; Mohammadi, MH; Rohrbach, M; Dinopoulos, A; Wermuth, M; Willis, D; Brugger, K; Wevers, RA; Boltshauser, E; Bierau, J; Mayr, JA; Wortmann, SB;
Genet Med. 2020; 22(10):1589-1597
Originalarbeiten (Zeitschrift)
Evolocumab in Pediatric Heterozygous Familial Hypercholesterolemia.
Santos, RD; Ruzza, A; Hovingh, GK; Wiegman, A; Mach, F; Kurtz, CE; Hamer, A; Bridges, I; Bartuli, A; Bergeron, J; Szamosi, T; Santra, S; Stefanutti, C; Descamps, OS; Greber-Platzer, S; Luirink, I; Kastelein, JJP; Gaudet, D;
N Engl J Med. 2020; 383(14):-1327.
Originalarbeiten (Zeitschrift) – Beitrag als Studygroup-Member
Once-Weekly Somapacitan vs Daily GH in Children With GH Deficiency: Results From a Randomized Phase 2 Trial.
Sävendahl, L; Battelino, T; Brod, M; Højby Rasmussen, M; Horikawa, R; Juul, RV; Saenger, P;
J Clin Endocrinol Metab. 2020; 105(4):
Originalarbeiten (Zeitschrift)
Austrian study shows that delays in accessing acute paediatric health care outweighed the risks of COVID-19.
Schaffert, M; Zimmermann, F; Bauer, L; Kastner, S; Schwarz, A; Strenger, V; Metzger, R; Thun-Hohenstein, L; Sperl, W; Weghuber, D; Wortmann, SB;
Acta Paediatr. 2020; 109(11):2309-2310
Kurzberichte/Notes
Age-Related Deterioration of Mitochondrial Function in the Intestine.
Schneider, AM; Özsoy, M; Zimmermann, FA; Feichtinger, RG; Mayr, JA; Kofler, B; Sperl, W; Weghuber, D; Mörwald, K;
Oxid Med Cell Longev. 2020; 2020:4898217
Übersichtsarbeiten
Interview Those who inherit well can continue to invest well Conversation with University Professor Dr. Wolfgang Sperl, Director of the University Clinic for Pediatrics and Adolescent Medicine in Salzburg and Rector of the Paracelsus Medical Private University Salzburg
Sperl, W
PADIATR PADOL. 2020; 55(6):
News-Items
Rehabilitation of Children and Adolescents in Austria: Actual Situation
Sperl, W;
PADIATR PADOL. 2020; 55(SUPPL 3): 144-148.
Originalarbeiten (Zeitschrift)
The switch in the diagnosis of mitochondrial diseases from the classical function first to the NGS-based genetics first diagnostic era.
Sperl, W; Wortmann, S; Feichtinger, RG; Mayr, JA;
J Mother Child. 2020; 24(2): 47-52.
Originalarbeiten (Zeitschrift)
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.
Staufner, C; Peters, B; Wagner, M; Alameer, S; Barić, I; Broué, P; Bulut, D; Church, JA; Crushell, E; Dalgıç, B; Das, AM; Dick, A; Dikow, N; Dionisi-Vici, C; Distelmaier, F; Bozbulut, NE; Feillet, F; Gonzales, E; Hadzic, N; Hauck, F; Hegarty, R; Hempel, M; Herget, T; Klein, C; Konstantopoulou, V; Kopajtich, R; Kuster, A; Laass, MW; Lainka, E; Larson-Nath, C; Leibner, A; Lurz, E; Mayr, JA; McKiernan, P; Mention, K; Moog, U; Mungan, NO; Riedhammer, KM; Santer, R; Palafoll, IV; Vockley, J; Westphal, DS; Wiedemann, A; Wortmann, SB; Diwan, GD; Russell, RB; Prokisch, H; Garbade, SF; Kölker, S; Hoffmann, GF; Lenz, D;
Genet Med. 2020; 22(3):610-621
Originalarbeiten (Zeitschrift)
Delineating
Stendel, C; Neuhofer, C; Floride, E; Yuqing, S; Ganetzky, RD; Park, J; Freisinger, P; Kornblum, C; Kleinle, S; Schöls, L; Distelmaier, F; Stettner, GM; Büchner, B; Falk, MJ; Mayr, JA; Synofzik, M; Abicht, A; Haack, TB; Prokisch, H; Wortmann, SB; Murayama, K; Fang, F; Klopstock, T;
Neurol Genet. 2020; 6(1): e393
Originalarbeiten (Zeitschrift)
Corrigendum to "Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases" [EBioMedicine 54 (2020) 102730].
Tan, J; Wagner, M; Stenton, SL; Strom, TM; Wortmann, SB; Prokisch, H; Meitinger, T; Oexle, K; Klopstock, T;
EBioMedicine. 2020; 61:103072
Korrekturen
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan, J; Wagner, M; Stenton, SL; Strom, TM; Wortmann, SB; Prokisch, H; Meitinger, T; Oexle, K; Klopstock, T;
EBioMedicine. 2020; 54: 102730
Originalarbeiten (Zeitschrift)
Relative Bioavailability of Enalapril Administered as Orodispersible Minitablets in Healthy Adults.
Van Hecken, A; Burckhardt, BB; Khalil, F; de Moon, J; Klingmann, I; Herbots, M; Laeer, S; Lagler, FB; Breitkreutz, J
Clin Pharmacol Drug Dev. 2020; 9(2):203-213
Originalarbeiten (Zeitschrift)
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.
van Rijt, WJ; Jager, EA; Allersma, DP; Aktuğlu Zeybek, AÇ; Bhattacharya, K; Debray, FG; Ellaway, CJ; Gautschi, M; Geraghty, MT; Gil-Ortega, D; Larson, AA; Moore, F; Morava, E; Morris, AA; Oishi, K; Schiff, M; Scholl-Bürgi, S; Tchan, MC; Vockley, J; Witters, P; Wortmann, SB; van Spronsen, F; Van Hove, JLK; Derks, TGJ;
Genet Med. 2020; 22(5):908-916
Originalarbeiten (Zeitschrift)
GLP-1 analogues for treatment of type 2 diabetes in adolescents
Veyder-Malberg, C; Furthner, D; Dalus, C; Maruszczak, K; Schneider, AM; Weghuber, D
MONATSSCHR KINDERH. 2020;
Originalarbeiten (Zeitschrift)
Response To: Overlapping Phenotype from Double Trouble SMARCA2 and POLG1 Variants c.2556A > C and c.3708G > T, Respectively.
von Stülpnagel, C; Hofmeister, B; Berweck, S; Kluger, G; Weber, P;
Neuropediatrics. 2020; 51(5):375-376
Letter
Network for Therapy in Rare Epilepsies (NETRE): Lessons From the Past 15 Years.
von Stülpnagel, C; van Baalen, A; Borggraefe, I; Eschermann, K; Hartlieb, T; Kiwull, L; Pringsheim, M; Wolff, M; Kudernatsch, M; Wiegand, G; Striano, P; Kluger, G;
Front Neurol. 2020; 11:622510
Übersichtsarbeiten
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus.
Wagner, M; Levy, J; Jung-Klawitter, S; Bakhtiari, S; Monteiro, F; Maroofian, R; Bierhals, T; Hempel, M; Elmaleh-Berges, M; Kitajima, JP; Kim, CA; Salomao, JG; Amor, DJ; Cooper, MS; Perrin, L; Pipiras, E; Neu, A; Doosti, M; Karimiani, EG; Toosi, MB; Houlden, H; Jin, SC; Si, YC; Rodan, LH; Venselaar, H; Kruer, MC; Kok, F; Hoffmann, GF; Strom, TM; Wortmann, SB; Tabet, AC; Opladen, T
GENET MED. 2020; 22(6): 1061-1068.
Originalarbeiten (Zeitschrift)
Ketogenic diet in the treatment of cancer - Where do we stand?
Weber, DD; Aminzadeh-Gohari, S; Tulipan, J; Catalano, L; Feichtinger, RG; Kofler, B;
Mol Metab. 2020; 33:10-121
Übersichtsarbeiten
Obesity, metabolic comorbidities and microbiome modulation in pediatrics
Weghuber, D
PADIATR PADOL. 2020; 55(2): 64-71.
Originalarbeiten (Zeitschrift)
A 6-month randomized, double-blind, placebo-controlled trial of weekly exenatide in adolescents with obesity.
Weghuber, D; Forslund, A; Ahlström, H; Alderborn, A; Bergström, K; Brunner, S; Cadamuro, J; Ciba, I; Dahlbom, M; Heu, V; Hofmann, J; Kristinsson, H; Kullberg, J; Ladinger, A; Lagler, FB; Lidström, M; Manell, H; Meirik, M; Mörwald, K; Roomp, K; Schneider, R; Vilén, H; Widhalm, K; Zsoldos, F; Bergsten, P;
Pediatr Obes. 2020; 15(7): e12624
Originalarbeiten (Zeitschrift)
A Snapshot of European Childrens Eating Habits: Results from the Fourth Round of the WHO European Childhood Obesity Surveillance Initiative (COSI).
Williams, J; Buoncristiano, M; Nardone, P; Rito, AI; Spinelli, A; Hejgaard, T; Kierkegaard, L; Nurk, E; Kunešová, M; Musić Milanović, S; García-Solano, M; Gutiérrez-González, E; Brinduse, LA; Cucu, A; Fijałkowska, A; Farrugia SantAngelo, V; Abdrakhmanova, S; Pudule, I; Duleva, V; Yardim, N; Gualtieri, A; Heinen, M; Bel-Serrat, S; Usupova, Z; Peterkova, V; Shengelia, L; Hyska, J; Tanrygulyyeva, M; Petrauskiene, A; Rakhmatullaeva, S; Kujundzic, E; Ostojic, SM; Weghuber, D; Melkumova, M; Spiroski, I; Starc, G; Rutter, H; Rathmes, G; Bunge, AC; Rakovac, I; Boymatova, K; Weber, M; Breda, J;
Nutrients. 2020; 12(8):
Originalarbeiten (Zeitschrift)
Reader response:
Wolf, P; von Stülpnagel, C; Hartlieb, T; Møller, RS; Kluger, GJ;
Neurology. 2020; 94(8): 368-369.
Kommentare
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.
Wortmann, SB; Meunier, B; Mestek-Boukhibar, L; van den Broek, F; Maldonado, EM; Clement, E; Weghuber, D; Spenger, J; Jaros, Z; Taha, F; Yue, WW; Heales, SJ; Davison, JE; Mayr, JA; Rahman, S;
Am J Hum Genet. 2020; 106(2): 256-263.
Originalarbeiten (Zeitschrift)
Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor.
Wortmann, SB; Van Hove, JLK; Derks, TGJ; Chevalier, N; Knight, V; Koller, A; Oussuren, E; Mayr, JA; van Spronsen, FJ; Lagler, FB; Gaughan, S; Van Schaftingen, E; Veiga-da-Cunha, M;
Blood. 2020; 136(9): 1033-1043.
Originalarbeiten (Zeitschrift)
Physical Activity in the Prevention of Childhood Obesity: The Position of the European Childhood Obesity Group and the European Academy of Pediatrics.
Wyszynska, J; Ring-Dimitriou, S; Thivel, D; Weghuber, D; Hadjipanayis, A; Grossman, Z; Ross-Russell, R; Deren, K; Mazur, A
FRONT PEDIATR. 2020; 8: 535705
Übersichtsarbeiten
Serine Catabolism Feeds NADH when Respiration Is Impaired.
Yang, L; Garcia Canaveras, JC; Chen, Z; Wang, L; Liang, L; Jang, C; Mayr, JA; Zhang, Z; Ghergurovich, JM; Zhan, L; Joshi, S; Hu, Z; McReynolds, MR; Su, X; White, E; Morscher, RJ; Rabinowitz, JD;
Cell Metab. 2020; 31(4): 809-821.e6.
Originalarbeiten (Zeitschrift)
Monogenic variants in dystonia: an exome-wide sequencing study.
Zech, M; Jech, R; Boesch, S; Skorvanek, M; Weber, S; Wagner, M; Zhao, C; Jochim, A; Necpal, J; Dincer, Y; Vill, K; Disteimaier, F; Stoklosa, M; Krenn, M; Grunwald, S; Bock-Bierbaum, T; Fecikova, A; Havrankova, P; Roth, J; Prihodova, I; Adamovicova, M; Ulmanova, O; Bechyne, K; Danhofer, P; Vesely, B; Han, V; Pavelekova, P; Gdovinova, Z; Mantel, T; Meindl, T; Sitzberger, A; Schroder, S; Blaschek, A; Roser, T; Bonfert, M; Haberlandt, E; Plecko, B; Leineweber, B; Berweck, S; Herberhold, T; Langguth, B; Svantnerova, J; Minar, M; Ramos-Rivera, GA; Wojcik, MH; Pajusalu, S; Ounap, K; Schatz, UA; Polsler, L; Milenkovic, I; Laccone, F; Pilhofer, V; Colombo, R; Patzer, S; Iuso, A; Vera, J; Troncoso, M; Fang, F; Prokisch, H; Wilbert, F; Eckenweiler, M; Graf, E; Westphal, DS; Riedhammer, KM; Brunet, T; Alhaddad, B; Berutti, R; Strom, TM; Hecht, M; Baumann, M; Wolf, M; Telegrafi, A; Person, RE; Zamora, FM; Henderson, LB; Weise, D; Musacchio, T; Volkmann, J; Szuto, A; Becker, J; Cremer, K; Sycha, T; Zimprich, F; Kraus, V; Makowski, C; Gonzalez-Alegre, P; Bardakjian, TM; Ozelius, LJ; Vetro, A; Guerrini, R; Maier, E; Borggraefe, I; Kuster, A; Wortmann, SB; Hackenberg, A; Steinfeld, R; Assmann, B; Staufner, C; Opladen, T; Ruzicka, E; Cohn, RD; Dyment, D; Chung, WK; Engels, H; Ceballos-Baumann, A; Ploski, R; Daumke, O; Haslinger, B; Mall, V; Oexle, K; Winkehnann, J
LANCET NEUROL. 2020; 19(11): 908-918.
Originalarbeiten (Zeitschrift)
FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome.
Zimmermann, M; Schuster, S; Boesch, S; Korenke, GC; Mohr, J; Reichbauer, J; Kernstock, C; Kotzot, D; Spahlinger, V; Schule-Freyer, R; Schols, L
PARKINSONISM RELAT D. 2020; 74: 6-11.
Originalarbeiten (Zeitschrift)

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

Updated insight into the mutational and phenotypic spectrum of MED13L-related intellectual disability
Asadollahi, R; Boonsawat, P; Popp, B; Torti, E; Bader, I; Vitobello, A; Moutton, S; Pinson, L; Lambert, L; Thuresson, AC; Sobol, M; Zander, CS; Platzer, K; Strehlow, V; Hornemann, F; Zacher, P; Mau-Them, FT; Bruel, AL; Hajianpour, MJ; Kovacs-Nagy, R; Lay-Son, G; Amlie-Wolf, L; Kaplan, J; Chassevent, A; Smith-Hicks, C; Slavotinek, A; Kukolich, MK; Nugent, K; Roeder, E; Zarate, YA; Toshiyuki, Y; Jackel-Cram, C; Maystadt, I; Mehta, SG; Briggs, TA; Chandler, K; van Haeringen, A; Kraus, C; Zweier, C; Reis, A; Rauch, A
EUR J HUM GENET. 2020; 28(SUPPL 1): 350-351.
Abstracts (Zeitschrift)
Genotypes and phenotypes in 6p25 deletion syndrome
Bader, I; Reindl, I; Sander, G; Kronberger, G; Pleyers, A; Mayr, H; Koch, J; Atzwanger, J; Frenzel, C; Haschke-Becher, E; Kotzot, D; Sperl, W
EUR J HUM GENET. 2020; 28(SUPPL 1): 921-922.
Abstracts (Zeitschrift)
THE IMPACT OF LOW-DOSE CALCIPOTRIOL OINTMENT ON WOUND HEALING, PRURITUS AND PAIN IN PATIENTS WITH DYSTROPHIC EPIDERMOLYSIS BULLOSA
Guttmann-Gruber, C; Hofbauer, JP; Tockner, B; Reichl, V; Hofbauer, P; Wolkersdorfer, M; Common, JE; Diem, A; Ude-Schoder, K; Hitzl, W; Lagler, F; Reichelt, J; Bauer, JW; Lang, R; Laimer, M
ACTA DERM-VENEREOL. 2020; 100: 41-41.
Abstracts (Zeitschrift)
Multi-Omics integration for molecular diagnostics of mendelian disorders
Kopajtich, R; Smirnov, D; Loipfinger, S; Meng, C; Ghezzi, D; Murayama, K; Mayr, JA; Freisinger, P; Metodiev, D; Rotig, A; Klopstock, T; Hoffmann, GF; Santer, R; Distelmaier, F; Olsen, R; Piekutowska-Abramczuk, D; Verloo, P; Lamperti, C; Gagneur, J; Ludwig, C; Prokisch, H
EUR J HUM GENET. 2020; 28(SUPPL 1): 119-120.
Abstracts (Zeitschrift)
Home infusion therapy with agalsidase alfa for patients with Fabry disease in Germany and Austria
Lachmann, A; Kurschat, C; Fritsch, A; Lagler, F; Sunder-Plassmann, G; Martus, P; Kralewski, M; Hennermann, JB
MOL GENET METAB. 2020; 129(2): S94-S94.
Abstracts (Zeitschrift)
Delineating the phenotypic spectrum of STX1B associated epilepsy
Schlogl, M; Krenn, M; Pataraia, E; Schroder, S; Mayr, JA; Rauscher, C; Kotzot, D; Zimprich, F; Meitinger, T; Wagner, M
EUR J HUM GENET. 2020; 28(SUPPL 1): 390-390.
Abstracts (Zeitschrift)
Impaired complex I repair causes recessive Leberxxxs hereditary optic neuropathy
Stenton, SL; Sheremet, N; Catarino, C; Andreeva, N; Assouline, Z; Barboni, P; Barel, O; Bychkov, I; Caporali, L; Issa, PC; Freisinger, P; Gerber, S; Ghezzi, D; Heidler, J; Hempel, M; Heon, E; Itkis, Y; Javasky, E; Kaplan, J; Kopajtich, R; Kornblum, C; Kovacs-Nagy, R; Krylova, T; Kunz, W; La Morgia, C; Lamperti, C; Ludwig, C; Malacarne, P; Mayr, J; Meisterknecht, J; Nevinitsyna, T; Palombo, F; Pode-Shakked, B; Shmelkova, M; Tzadok, M; van der Ven, A; Vignal-Clermont, C; Wagner, M; Zakharova, E; Zhorzholadze, N; Rozet, J; Carelli, V; Tsygankova, P; Klopstock, T; Wittig, I; Prokisch, H
EUR J HUM GENET. 2020; 28(SUPPL 1): 120-121.
Abstracts (Zeitschrift)
Mitochondriopathy in pediatric patients with unspecific neuropediatric disease
van der Ven, A; Denecke, J; Tsiakas, K; Wortmann, S; Lessel, D; Kortum, F; Bierhals, T; Prokisch, H; Santer, R; Hempel, M
EUR J HUM GENET. 2020; 28(SUPPL 1): 297-297.
Abstracts (Zeitschrift)
TREATMENT OF AGGRESSIVE SQUAMOUS CELL CARCINOMA IN PATIENTS WITH EPIDERMOLYSIS BULLOSA: MITOCHONDRIA AS A POSSIBLE TARGET
Welponer, T; Trattner, L; Tockner, B; Reichl, V; Kaufmann, A; Kienzl, M; Felder, T; Aminzadeh-Gohari, S; Feichtinger, R; Lang, R; Bauer, JW; Reichelt, J; Kofler, B; Guttmann-Gruber, C; Hofbauer, JP
ACTA DERM-VENEREOL. 2020; 100: 52-53.
Abstracts (Zeitschrift)

2019

Beiträge in Fachzeitschriften

Orodispersible minitablets of enalapril for use in children with heart failure (LENA): Rationale and protocol for a multicentre pharmacokinetic bridging study and follow-up safety study.
Bajcetic, M; de Wildt, SN; Dalinghaus, M; Breitkreutz, J; Klingmann, I; Lagler, FB; Keatley-Clarke, A; Breur, JMPJ; Male, C; Jovanovic, I; Szatmari, A; Ablonczy, L; Burckhardt, BB; Cawello, W; Kleine, K; Obarcanin, E; Spatenkova, L; Swoboda, V; van der Meulen, M; Wagner, P; Walsh, J; Laer, S
CONT CLIN TRIAL COMM. 2019; 15: 100393
Originalarbeiten (Zeitschrift)
Update: Management of premature infants at the border of viability. Updated joint guidelines of the working group for neonatology and pediatric intensive care medicine of the Austrian Society of Pediatrics and Adolescent Medicine (OGKJ), the working group on ethics in pediatrics and adolescent medicine of the OGKJ and the Institute for Ethics and Law in Medicine at the University of Vienna (IERM)
Berger, A; Kiechl-Kohlendorfer, U; Berger, J; Dilch, A; Kletecka-Pulker, M; Urlesberger, B; Wald, M; Weissensteiner, M; Salzer, H
MONATSSCHR KINDERH. 2019; 167(1): 36-44.
Originalarbeiten (Zeitschrift)
Mode of Birth in extremely Premature Babies Amendments to the Guidelines on Primary Care of Preterm Neonates on the Borderline of Viability
Berger, A; Kiechl-Kohlendorfer, U; Berger, J; Dilch, A; Kletecka-Pulker, M; Urlesberger, B; Wald, M; Weissensteiner, M; Salzer, H
MONATSSCHR KINDERH. 2019; 167(1): 34-35.
Kurzberichte/Notes
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Blok, LS; Rousseau, J; Twist, J; Ehresmann, S; Takaku, M; Venselaar, H; Rodan, LH; Nowak, CB; Douglas, J; Swoboda, KJ; Steeves, MA; Sahai, I; Stumpel, CTRM; Stegmann, APA; Wheeler, P; Willing, M; Fiala, E; Kochhar, A; Gibson, WT; Cohen, ASA; Agbahovbe, R; Innes, AM; Au, PYB; Rankin, J; Anderson, IJ; Skinner, SA; Louie, RJ; Warren, HE; Afenjar, A; Keren, B; Nava, C; Buratti, J; Isapof, A; Rodriguez, D; Lewandowski, R; Propst, J; van Essen, T; Choi, M; Lee, S; Chae, JH; Price, S; Schnur, RE; Douglas, G; Wentzensen, IM; Zweier, C; Reis, A; Bialer, MG; Moore, C; Koopmans, M; Brilstra, EH; Monroe, GR; van Gassen, KLI; van Binsbergen, E; Newbury-Ecob, R; Bownass, L; Bader, I; Mayr, JA; Wortmann, SB; Jakielski, KJ; Strand, EA; Kloth, K; Bierhals, T; Roberts, JD; Petrovich, RM; Machida, S; Kurumizaka, H; Lelieveld, S; Pfundt, R; Jansen, S; Deriziotis, P; Faivre, L; Thevenon, J; Assoum, M; Shriberg, L; Kleefstra, T; Brunner, HG; Wade, PA; Fisher, SE; Campeau, PM;
Nat Commun. 2019; 10(1):883
Korrekturen
Evaluation of reference intervals of haematological and biochemical markers in an Austrian adolescent study cohort.
Bogner, B; Schwenoha, K; Vogl, M; Weghuber, D; Roth, C; Kipman, U; Cadamuro, J; Oostingh, GJ;

Originalarbeiten (Zeitschrift)
Validation of antibody-based tools for galanin research.
Brunner, SM; Koller, A; Stockinger, J; Locker, F; Leis, S; Ernst, F; Strasser, P; Brodowicz, B; Ebner, S; Holub, BS; Rauch, I; Graf, K; Lang, R; Kofler, B;
Peptides. 2019; 120: 170009
Originalarbeiten (Zeitschrift)
Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases
Bugiardini, E; Pope, S; Feichtinger, RG; Poole, OV; Pittman, AM; Woodward, CE; Heales, S; Quinlivan, R; Houlden, H; Mayr, JA; Hanna, MG; Pitceathly, RDS;
J Clin Med. 2019; 8(7):
Fallberichte
HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.
Burkardt, DD; Zachariou, A; Loveday, C; Allen, CL; Amor, DJ; Ardissone, A; Banka, S; Bourgois, A; Coubes, C; Cytrynbaum, C; Faivre, L; Marion, G; Horton, R; Kotzot, D; Lay-Son, G; Lees, M; Low, K; Luk, HM; Mark, P; McConkie-Rosell, A; McDonald, M; Pappas, J; Phillipe, C; Shears, D; Skotko, B; Stewart, F; Stewart, H; Temple, IK; Mau-Them, FT; Verdugo, RA; Weksberg, R; Zarate, YA; Graham, JM; Tatton-Brown, K
AM J MED GENET A. 2019; 179(10): 2049-2055.
Originalarbeiten (Zeitschrift)
Consumption of Sugar-Sweetened Beverages in Paediatric Age: A Position Paper of the European Academy of Paediatrics and the European Childhood Obesity Group.
Dereń, K; Weghuber, D; Caroli, M; Koletzko, B; Thivel, D; Frelut, ML; Socha, P; Grossman, Z; Hadjipanayis, A; Wyszyńska, J; Mazur, A;
Ann Nutr Metab. 2019; 74(4): 296-302.
Originalarbeiten (Zeitschrift)
Growth, Feeding Tolerance and Metabolism in Extreme Preterm Infants under an Exclusive Human Milk Diet.
Eibensteiner, F; Auer-Hackenberg, L; Jilma, B; Thanhaeuser, M; Wald, M; Haiden, N;
Nutrients. 2019; 11(7):
Originalarbeiten (Zeitschrift)
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.
Esposito, A; Falace, A; Wagner, M; Gal, M; Mei, D; Conti, V; Pisano, T; Aprile, D; Cerullo, MS; De Fusco, A; Giovedì, S; Seibt, A; Magen, D; Polster, T; Eran, A; Stenton, SL; Fiorillo, C; Ravid, S; Mayatepek, E; Hafner, H; Wortmann, S; Levanon, EY; Marini, C; Mandel, H; Benfenati, F; Distelmaier, F; Fassio, A; Guerrini, R;
Brain. 2019; 142(12): 3876-3891.
Originalarbeiten (Zeitschrift)
Simultaneous Semi-Mechanistic Population Pharmacokinetic Modeling Analysis of Enalapril and Enalaprilat Serum and Urine Concentrations From Child Appropriate Orodispersible Minitablets.
Faisal, M; Cawello, W; Burckhardt, BB; de Hoon, J; Laer, S; van Hecken, A; Herbort, M; Breitkreutz, J; Wiedey, W; Klingmann, I; Spatenkova, L; Lagler, F; Moder, A; Khalil, F;
FRONT PEDIATR. 2019; 7: 281
Originalarbeiten (Zeitschrift)
Model-dependent pharmacokinetic analysis of enalapril administered to healthy adult volunteers using orodispersible minitablets for use in pediatrics
Faisal, M; Cawello, W; Burckhardt, BB; Laer, S; de Hoon, J; van Hecken, A; Herbort, M; Breitkreutz, J; Wiedey, W; Klingmann, I; Spatenkova, L; Lagler, F; Moder, A; Khalil, F
DRUG DES DEV THER. 2019; 13: 481-490.
Originalarbeiten (Zeitschrift)
Targeting L-Lactate Metabolism to Overcome Resistance to Immune Therapy of Melanoma and Other Tumor Entities
Feichtinger, RG; Lang, R;
J ONCOL. 2019; 2019: 2084195
Übersichtsarbeiten
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.
Feichtinger, RG; Mucha, BE; Hengel, H; Orfi, Z; Makowski, C; Dort, J; DAnjou, G; Nguyen, TTM; Buchert, R; Juenger, H; Freisinger, P; Baumeister, S; Schoser, B; Ahting, U; Keimer, R; Nguyen, CE; Fabre, P; Gauthier, J; Miguet, M; Lopes, F; AlHakeem, A; AlHashem, A; Tabarki, B; Kandaswamy, KK; Bauer, P; Steinbacher, P; Prokisch, H; Sturm, M; Strom, TM; Ellezam, B; Mayr, JA; Schöls, L; Michaud, JL; Campeau, PM; Haack, TB; Dumont, NA;
Genet Med. 2019; 21(11):2521-2531
Originalarbeiten (Zeitschrift)
Low VDAC1 Expression Is Associated with an Aggressive Phenotype and Reduced Overall Patient Survival in Cholangiocellular Carcinoma.
Feichtinger, RG; Neureiter, D; Kemmerling, R; Mayr, JA; Kiesslich, T; Kofler, B;
Cells. 2019; 8(6):
Originalarbeiten (Zeitschrift)
Clinical and metabolic characterization of obese subjects without non-alcoholic fatty liver: A targeted metabolomics approach.
Feldman, A; Eder, SK; Felder, TK; Paulweber, B; Zandanell, S; Stechemesser, L; Schranz, M; Strebinger, G; Huber-Schönauer, U; Niederseer, D; Patsch, W; Weghuber, D; Tevini, J; Datz, C; Aigner, E;
Diabetes Metab. 2019; 45(2):132-139
Originalarbeiten (Zeitschrift)
Skipping breakfast is associated with adiposity markers especially when sleep time is adequate in adolescents.
Forkertt, ECO; De Moraes, ACF; Caryalho, HB; Manios, Y; Widhalm, K; Gonzalez-Gross, M; Gutierrez, A; Kafatos, A; Censi, L; De Henauw, S; Moreno, LA
SCI REP-UK. 2019; 9(1): 6380
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GAL3 receptor knockout mice exhibit an alcohol-preferring phenotype
Genders, SG; Scheller, KJ; Jaehne, EJ; Turner, BJ; Lawrence, AJ; Brunner, SM; Kofler, B; van den Buuse, M; Djouma, E;
Addict Biol. 2019; 24(5): 886-897.
Originalarbeiten (Zeitschrift)
Age-related MR characteristics in mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy (MOGHE).
Hartlieb, T; Winkler, P; Coras, R; Pieper, T; Holthausen, H; Blümcke, I; Staudt, M; Kudernatsch, M;
Epilepsy Behav. 2019; 91:68-74
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Early-Life Nutrition, Growth Trajectories, and Long-Term Outcome.
Haschke, F; Binder, C; Huber-Dangl, M; Haiden, N
NESTLE NUTR WORKS SE. 2019; 90: 107-120.
Originalarbeiten (Zeitschrift)
Mitochondrial complex deficiency by novel compound heterozygous TMEM70 variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction in a Japanese patient: A case report.
Hirono, K; Ichida, F; Nishio, N; Ogawa-Tominaga, M; Fushimi, T; Feichtinger, RG; Mayr, JA; Kohda, M; Kishita, Y; Okazaki, Y; Ohtake, A; Murayama, K
CLIN CASE REP. 2019; 7(3): 553-557.
Fallberichte
Restricted Speech Recognition in Noise and Quality of Life of Hearing-Impaired Children and Adolescents With Cochlear Implants - Need for Studies Addressing This Topic With Valid Pediatric Quality of Life Instruments.
Huber, M; Havas, C
FRONT PSYCHOL. 2019; 10: 2085
Originalarbeiten (Zeitschrift)
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
Huemer, M; Diodato, D; Martinelli, D; Olivieri, G; Blom, H; Gleich, F; Kolker, S; Kozich, V; Morris, AA; Seifert, B; Froese, DS; Baumgartner, MR; Dionisi-Vici, C; Martin, CA; Baethmann, M; Ballhausen, D; Blasco-Alonso, J; Boy, N; Bueno, M; Pelaez, RB; Cerone, R; Chabrol, B; Chapman, KA; Couce, ML; Crushell, E; Serra, JD; Diogo, L; Ficicioglu, C; Jimenez, MCG; Silva, MTG; Gaspar, AM; Gautschi, M; Gonzalez-Lamuno, D; Gouveia, S; Grunewald, S; Hendriksz, C; Janssen, MCH; Jesina, P; Koch, J; Konstantopoulou, V; Lavigne, C; Lund, AM; Martins, EG; Olivas, SM; Mention, K; Mochel, F; Mundy, H; Murphy, E; Paquay, S; Pedron-Giner, C; Gomez, MAR; Santra, S; Schiff, M; Schwartz, IV; Scholl-Burgi, S; Servais, A; Skouma, A; Tran, C; Pinera, IV; Walter, J; Weisfeld-Adams, J
J INHERIT METAB DIS. 2019; 42(2): 333-352.
Originalarbeiten (Zeitschrift)
Alarin in different human intestinal epithelial cell types.
Jabari, S; Schrödl, F; Kaser-Eichberger, A; Kofler, B; Brehmer, A;
Histochem Cell Biol. 2019; 151(6): 513-520.
Originalarbeiten (Zeitschrift)
Clinical characteristics, resource utilization, quality of life and care situation for patients with Dravet syndrome in Germany
Kalski, M; Schubert-Bast, S; Kieslich, M; Leyer, AC; Polster, T; Herting, A; Mayer, T; Trollmann, R; Neubauer, BA; Bettendorf, U; Bast, T; Wiemer-Kruel, A; von Spiczak, S; Kurlemann, G; Wolff, M; Kluger, G; Carroll, J; Macdonald, D; Pritchard, C; Irwin, J; Klein, KM; Rosenow, F; Strzelczyk, A; Kay, L
Z EPILEPTOL. 2019;
Originalarbeiten (Zeitschrift)
Low mortality and short-term morbidity in very preterm infants in Austria 2011-2016.
Kiechl-Kohlendorfer, U; Simma, B; Urlesberger, B; Maurer-Fellbaum, U; Wald, M; Weissensteiner, M; Ehringer-Schetitska, D; Berger, A; Berger, A; Kurz, H; Bernert, G; Frischer, T; Minkov, M; Zwiauer, K; Ehringer-Schetitska, D; Salzer, H; Falger, J; Jaros, Z; Wagentristl, HP; Bruckner, R; Birnbacher, R; Kaulfersch, W; Urlesberger, B; Kerbl, R; Wiesinger-Eidenberger, G; Wald, M; Riedler, J; Kiechl-Kohlendorfer, U; Simma, B
ACTA PAEDIATR. 2019; 108(8): 1419-1426.
Originalarbeiten (Zeitschrift)
Positive Short-Term Effect of Low-Dose Rosuvastatin in a Patient with SYNGAP1-Associated Epilepsy.
Kluger, G; von Stulpnagel-Steinbeis, C; Arnold, S; Eschermann, K; Hartlieb, T
NEUROPEDIATRICS. 2019; 50(4): 266-267.
Letter
Unresponsive Wakefulness Syndrome in Children after Near-Drowning: Long-Term Outcome and Impact on the Families.
Kluger, GJ; Kirsch, A; Hessenauer, M; Aust, H; Berweck, S; Sperl, W; Betzler, C; von Stülpnagel-Steinbeis, C; Staudt, M;
Neuropediatrics. 2019; 50(2):71-79
Originalarbeiten (Zeitschrift)
Galanin is a potent modulator of cytokine and chemokine expression in human macrophages.
Koller, A; Brunner, SM; Bianchini, R; Ramspacher, A; Emberger, M; Locker, F; Schlager, S; Kofler, B;
Sci Rep. 2019; 9(1): 7237
Originalarbeiten (Zeitschrift)
Guava (Psidium guajava) Fruit Extract Prepared by Supercritical CO2 Extraction Inhibits Intestinal Glucose Resorption in a Double-Blind, Randomized Clinical Study
König, A; Schwarzinger, B; Stadlbauer, V; Lanzerstorfer, P; Iken, M; Schwarzinger, C; Kolb, P; Schwarzinger, S; Mörwald, K; Brunner, S; Höglinger, O; Weghuber, D; Weghuber, J;
Nutrients. 2019; 11(7):
Originalarbeiten (Zeitschrift)
Biallelic mutations in PIGP cause developmental and epileptic encephalopathy
Krenn, M; Knaus, A; Westphal, DS; Wortmann, SB; Polster, T; Woermann, FG; Karenfort, M; Mayatepek, E; Meitinger, T; Wagner, M; Distelmaier, F
ANN CLIN TRANSL NEUR. 2019; 6(5): 968-973.
Originalarbeiten (Zeitschrift)
Inducing cancer indolence by targeting mitochondrial Complex I is potentiated by blocking macrophage-mediated adaptive responses.
Kurelac, I; Iommarinio, L; Vatrinet, R; Amato, LB; De Luise, M; Leone, G; Girolimetti, G; Ganesh, NU; Bridgeman, VL; Ombrato, L; Columbaro, M; Ragazzi, M; Gibellini, L; Sollazzo, M; Feichtinger, RG; Vidali, S; Baldassarre, M; Foriel, S; Vidone, M; Cossarizza, A; Grifoni, D; Kofler, B; Malanchi, I; Porcelli, AM; Gasparre, G
NAT COMMUN. 2019; 10(1): 903
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Dravet-Syndrom und Impfung — epileptologische, genetische und gutachtliche Aspekte
Kusnik, B; Lorenz, M; Kleiser, B; Kluger, G;
Der medizinische Sachverständige. 2019;
Originalarbeiten (Zeitschrift)
Extent, impact, and predictors of diagnostic delay in Pompe disease: A combined survey approach to unveil the diagnostic odyssey.
Lagler, FB; Moder, A; Rohrbach, M; Hennermann, J; Mengel, E; Gökce, S; Hundsberger, T; Rösler, KM; Karabul, N; Huemer, M;
JIMD Rep. 2019; 49(1): 8-95.
Originalarbeiten (Zeitschrift)
Fully convolutional networks for automated segmentation of abdominal adipose tissue depots in multicenter water-fat MRI.
Langner, T; Hedstrom, A; Morwald, K; Weghuber, D; Forslund, A; Bergsten, P; Ahlstrom, H; Kullberg, J
MAGN RESON MED. 2019; 81(4): 2736-2745.
Originalarbeiten (Zeitschrift)
Untargeted Metabolomics Reveals Molecular Effects of Ketogenic Diet on Healthy and Tumor Xenograft Mouse Models.
Licha, D; Vidali, S; Aminzadeh-Gohari, S; Alka, O; Breitkreuz, L; Kohlbacher, O; Reischl, RJ; Feichtinger, RG; Kofler, B; Huber, CG;
Int J Mol Sci. 2019; 20(16):
Originalarbeiten (Zeitschrift)
Brown adipose tissue estimated with the magnetic resonance imaging fat fraction is associated with glucose metabolism in adolescents.
Lundström, E; Ljungberg, J; Andersson, J; Manell, H; Strand, R; Forslund, A; Bergsten, P; Weghuber, D; Mörwald, K; Zsoldos, F; Widhalm, K; Meissnitzer, M; Ahlström, H; Kullberg, J;
Pediatr Obes. 2019; 14(9):e12531
Originalarbeiten (Zeitschrift)
Hyperglucagonemia in youth is associated with high plasma free fatty acids, visceral adiposity, and impaired glucose tolerance.
Manell, H; Kristinsson, H; Kullberg, J; Ubhayasekera, SJK; Mörwald, K; Staaf, J; Cadamuro, J; Zsoldos, F; Göpel, S; Sargsyan, E; Ahlström, H; Bergquist, J; Weghuber, D; Forslund, A; Bergsten, P;
Pediatr Diabetes. 2019; 20(7):880-891
Originalarbeiten (Zeitschrift)
Development, behaviour and autism in individuals with SMC1A variants.
Mulder, PA; Huisman, S; Landlust, AM; Moss, J; Piening, S; Hennekam, RC; van Balkom, IDC;
J Child Psychol Psychiatry. 2019; 60(3): 305-313.
Originalarbeiten (Zeitschrift)
International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria.
Muntau, AC; Adams, DJ; Belanger-Quintana, A; Bushueva, TV; Cerone, R; Chien, YH; Chiesa, A; Coskun, T; de las Heras, J; Feillet, F; Katz, R; Lagler, F; Piazzon, F; Rohr, F; van Spronsen, FJ; Vargas, P; Wilcox, G; Bhattacharya, K
MOL GENET METAB. 2019; 127(1): 1-11.
Originalarbeiten (Zeitschrift)
Rising rural body-mass index is the main driver of the global obesity epidemic in adults.
NCD Risk Factor Collaboration (NCD-RisC)
Nature. 2019; 569(7755): 260-264.
Originalarbeiten (Zeitschrift)
Mutations in NDUFS1 Cause Metabolic Reprogramming and Disruption of the Electron Transfer.
Ni, Y; Hagras, MA; Konstantopoulou, V; Mayr, JA; Stuchebrukhov, AA; Meierhofer, D;
Cells. 2019; 8(10):
Originalarbeiten (Zeitschrift)
Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
Paine, I; Posey, JE; Grochowski, CM; Jhangiani, SN; Rosenheck, S; Kleyner, R; Marmorale, T; Yoon, M; Wang, K; Robison, R; Cappuccio, G; Pinelli, M; Magli, A; Coban Akdemir, Z; Hui, J; Yeung, WL; Wong, BKY; Ortega, L; Bekheirnia, MR; Bierhals, T; Hempel, M; Johannsen, J; Santer, R; Aktas, D; Alikasifoglu, M; Bozdogan, S; Aydin, H; Karaca, E; Bayram, Y; Ityel, H; Dorschner, M; White, JJ; Wilichowski, E; Wortmann, SB; Casella, EB; Kitajima, JP; Kok, F; Monteiro, F; Muzny, DM; Bamshad, M; Gibbs, RA; Sutton, VR; Van Esch, H; Brunetti-Pierri, N; Hildebrandt, F; Brautbar, A; Van den Veyver, IB; Glass, I; Lessel, D; Lyon, GJ; Lupski, JR;
Am J Hum Genet. 2019; 105(2): 302-316.
Originalarbeiten (Zeitschrift)
Longitudinal trajectories of BMI z-score: an international comparison of 11,513 Australian, American and German/Austrian/Luxembourgian youth with type 1 diabetes
Phelan, H; Foster, NC; Schwandt, A; Couper, JJ; Willi, S; Kroschwald, P; Jones, TW; Wu, MD; Steigleder-Schweiger, C; Craig, ME; Maahs, DM; Prinz, N
PEDIATR OBES. 2019; UNSP e12582
Originalarbeiten (Zeitschrift)
Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice.
Pringsheim, M; Mitter, D; Schroder, S; Warthemann, R; Plumacher, K; Kluger, G; Baethmann, M; Bast, T; Braun, S; Buttel, HM; Conover, E; Courage, C; Datta, AN; Eger, A; Grebe, TA; Hasse-Wittmer, A; Heruth, M; Hoft, K; Kaindl, AM; Karch, S; Kautzky, T; Korenke, GC; Kruse, B; Lutz, RE; Omran, H; Patzer, S; Philippi, H; Ramsey, K; Rating, T; Riess, A; Schimmel, M; Westman, R; Zech, FM; Zirn, B; Ulmke, PA; Sokpor, G; Tuoc, T; Leha, A; Staudt, M; Brockmann, K
ANN CLIN TRANSL NEUR. 2019; 6(4): 655-668.
Originalarbeiten (Zeitschrift)
Diabetes care in pediatric refugees from Africa or Middle East: experiences from Germany and Austria based on real-world data from the DPV registry.
Prinz, N; Konrad, K; Brack, C; Hahn, E; Herbst, A; Icks, A; Grulich-Henn, J; Jorch, N; Kastendieck, C; Monkemoller, K; Razum, O; Steigleder-Schweiger, C; Witsch, M; Holl, RW
EUR J ENDOCRINOL. 2019; 181(1): 31-38.
Originalarbeiten (Zeitschrift)
Influence of the regulatory peptide galanin on cytokine expression in human monocytes.
Ramspacher, A; Neudert, M; Koller, A; Schlager, S; Kofler, B; Brunner, SM;
Ann N Y Acad Sci. 2019; 1455(1): 185-195.
Originalarbeiten (Zeitschrift)
Non-celiac gluten/wheat sensitivity (NCGS) - a currently undefined disorder without validated diagnostic criteria and of unknown prevalence
Reese, I; Schafer, C; Kleine-Tebbe, J; Ahrens, B; Bachmann, O; Ballmer-Weber, B; Beyer, K; Bischoff, SC; Blumchen, K; Dolle, S; Enck, P; Enninger, A; Huttegger, I; Lammel, S; Lange, L; Lepp, U; Mahler, V; Monnikes, H; Ockenga, J; Otto, B; Schnadt, S; Szepfalusi, Z; Treudler, R; Wassmann-Otto, A; Zuberbier, T; Werfel, T; Worm, M
ALLERGOLOGIE. 2019; 42(3): 111-117.
Originalarbeiten (Zeitschrift)
Respiratory Syncytial Virus Prophylaxis with Palivizumab 2019 Update of the Recommendations of the Austrian Association of Pediatric and Adolescent Medicine
Resch, B; Eber, E; Ehringer-Schetitska, D; Kiechl-Kohlendorfer, U; Michel-Behnke, I; Popow-Kraupp, T; Redlberger-Fritz, M; Seidel, M; Strenger, V; Wald, M; Zacharasiewicz, A; Berger, A
PADIATR PADOL. 2019;
Originalarbeiten (Zeitschrift)
Could sport be part of pediatric obesity prevention and treatment? Expert conclusions from the 28th European Childhood Obesity Group Congress
Ring-Dimitriou, S; Krustrup, P; Coelho-E-Silva, MJ; Mota, J; Seabra, A; Rego, C; Mazur, A; Vlachopapadopoulou, E; Caroli, M; Frelut, ML; Erhardt, E; Forslund, A; Boyland, E; Weghuber, D; Thivel, D
J SPORT HEALTH SCI. 2019; 8(4): 350-352.
Editorials
The natural history of classic galactosemia: lessons from the GalNet registry
Rubio-Gozalbo, ME; Haskovic, M; Bosch, AM; Burnyte, B; Coelho, AI; Cassiman, D; Couce, ML; Dawson, C; Demirbas, D; Derks, T; Eyskens, F; Forga, MT; Grunewald, S; Haberle, J; Hochuli, M; Hubert, A; Huidekoper, HH; Janeiro, P; Kotzka, J; Knerr, I; Labrune, P; Landau, YE; Langendonk, JG; Moeslinger, D; Mueller-Wieland, D; Murphy, E; Ounap, K; Ramadza, D; Rivera, IA; Scholl-Buergi, S; Stepien, KM; Thijs, A; Tran, C; Vara, R; Visser, G; Vos, R; de Vries, M; Waisbren, SE; Welsink-Karssies, MM; Wortmann, SB; Gautschi, M; Treacy, EP; Berry, GT
ORPHANET J RARE DIS. 2019; 14: 86
Originalarbeiten (Zeitschrift)
Seizure management and prescription patterns of anticonvulsants in Dravet syndrome: A multicenter cohort study from Germany and review of literature.
Schubert-Bast, S; Wolff, M; Wiemer-Kruel, A; von Spiczak, S; Trollmann, R; Reif, PS; Pritchard, C; Polster, T; Neubauer, BA; Mayer, T; Macdonald, D; Kurlemann, G; Kluger, G; Klein, KM; Kieslich, M; Kay, L; Kalski, M; Irwin, J; Herting, A; Carroll, J; Bettendorf, U; Bast, T; Rosenow, F; Strzelczyk, A
EPILEPSY BEHAV. 2019; 98(Pt A): 88-95.
Übersichtsarbeiten
Clinical and genetic spectrum of SCN2A-associated episodic ataxia.
Schwarz, N; Bast, T; Gaily, E; Golla, G; Gorman, KM; Griffiths, LR; Hahn, A; Hukin, J; King, M; Korff, C; Miranda, MJ; Moller, RS; Neubauer, B; Smith, RA; Smol, T; Striano, P; Stroud, B; Vaccarezza, M; Kluger, G; Lerche, H; Fazeli, W
EUR J PAEDIATR NEURO. 2019; 23(3): 438-447.
Originalarbeiten (Zeitschrift)
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Snijders Blok, L; Rousseau, J; Twist, J; Ehresmann, S; Takaku, M; Venselaar, H; Rodan, LH; Nowak, CB; Douglas, J; Swoboda, KJ; Steeves, MA; Sahai, I; Stumpel, CTRM; Stegmann, APA; Wheeler, P; Willing, M; Fiala, E; Kochhar, A; Gibson, WT; Cohen, ASA; Agbahovbe, R; Innes, AM; Au, PYB; Rankin, J; Anderson, IJ; Skinner, SA; Louie, RJ; Warren, HE; Afenjar, A; Keren, B; Nava, C; Buratti, J; Isapof, A; Rodriguez, D; Lewandowski, R; Propst, J; van Essen, T; Choi, M; Lee, S; Chae, JH; Price, S; Schnur, RE; Douglas, G; Wentzensen, IM; Zweier, C; Reis, A; Bialer, MG; Moore, C; Koopmans, M; Brilstra, EH; Monroe, GR; van Gassen, KLI; van Binsbergen, E; Newbury-Ecob, R; Bownass, L; Bader, I; Mayr, JA; Wortmann, SB; Jakielski, KJ; Strand, EA; Kloth, K; Bierhals, T; Roberts, JD; Petrovich, RM; Machida, S; Kurumizaka, H; Lelieveld, S; Pfundt, R; Jansen, S; Deriziotis, P; Faivre, L; Thevenon, J; Assoum, M; Shriberg, L; Kleefstra, T; Brunner, HG; Wade, PA; Fisher, SE; Campeau, PM;
Nat Commun. 2019; 10(1):2079
Korrekturen
Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype.
Stence, NV; Fenton, LZ; Levek, C; Tong, SH; Coughlin, CR; Hennermann, JB; Wortmann, SB; Van Hove, JLK
J INHERIT METAB DIS. 2019; 42(3): 438-450.
Originalarbeiten (Zeitschrift)
Burden-of-illness and cost-driving factors in Dravet syndrome patients and carers: A prospective, multicenter study from Germany.
Strzelczyk, A; Kalski, M; Bast, T; Wiemer-Kruel, A; Bettendorf, U; Kay, L; Kieslich, M; Kluger, G; Kurlemann, G; Mayer, T; Neubauer, BA; Polster, T; Herting, A; von Spiczak, S; Trollmann, R; Wolff, M; Irwin, J; Carroll, J; Macdonald, D; Pritchard, C; Klein, KM; Rosenow, F; Schubert-Bast, S
EUR J PAEDIATR NEURO. 2019; 23(3): 392-403.
Originalarbeiten (Zeitschrift)
A multicenter, matched case-control analysis comparing burden-of-illness in Dravet syndrome to refractory epilepsy and seizure remission in patients and caregivers in Germany.
Strzelczyk, A; Schubert-Bast, S; Bast, T; Bettendorf, U; Fiedler, B; Hamer, HM; Herting, A; Kalski, M; Kay, L; Kieslich, M; Klein, KM; Kluger, G; Kurlemann, G; Mayer, T; Neubauer, BA; Polster, T; von Spiczak, S; Stephani, U; Trollmann, R; Wiemer-Kruel, A; Wolff, M; Irwin, J; Carroll, J; Pritchard, C; Rosenow, F
EPILEPSIA. 2019; 60(8): 1697-1710.
Originalarbeiten (Zeitschrift)
Liraglutide in Children and Adolescents with Type 2 Diabetes.
Tamborlane, WV; Barrientos-Pérez, M; Fainberg, U; Frimer-Larsen, H; Hafez, M; Hale, PM; Jalaludin, MY; Kovarenko, M; Libman, I; Lynch, JL; Rao, P; Shehadeh, N; Turan, S; Weghuber, D; Barrett, T;
N Engl J Med. 2019; 381(7): 637-646.
Originalarbeiten (Zeitschrift)
Mesial Temporal Sclerosis in SCN1A-Related Epilepsy: Two Long-Term EEG Case Studies.
Tiefes, AM; Hartlieb, T; Tacke, M; von Stülpnagel-Steinbeis, C; Larsen, LHG; Hao, Q; Dahl, HA; Neubauer, BA; Gerstl, L; Kudernatsch, M; Kluger, GJ; Borggraefe, I;
Clin EEG Neurosci. 2019; 50(4): 26-272.
Fallberichte
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.
Vaz, FM; McDermott, JH; Alders, M; Wortmann, SB; Kölker, S; Pras-Raves, ML; Vervaart, MAT; van Lenthe, H; Luyf, ACM; Elfrink, HL; Metcalfe, K; Cuvertino, S; Clayton, PE; Yarwood, R; Lowe, MP; Lovell, S; Rogers, RC; van Kampen, AHC; Ruiter, JPN; Wanders, RJA; Ferdinandusse, S; van Weeghel, M; Engelen, M; Banka, S;
Brain. 2019; 142(11): 3382-3397.
Originalarbeiten (Zeitschrift)
Lithium and Not Acetoacetate Influences the Growth of Cells Treated with Lithium Acetoacetate.
Vidali, S; Aminzadeh-Gohari, S; Vatrinet, R; Iommarini, L; Porcelli, AM; Kofler, B; Feichtinger, RG
INT J MOL SCI. 2019; 20(12):
Letter
Chewing induced reflex seizures ("eating epilepsy") and eye closure sensitivity as a common feature in pediatric patients with SYNGAP1 mutations: Review of literature and report of 8 cases.
von Stülpnagel, C; Hartlieb, T; Borggräfe, I; Coppola, A; Gennaro, E; Eschermann, K; Kiwull, L; Kluger, F; Krois, I; Møller, RS; Rössler, F; Santulli, L; Schwermer, C; Wallacher-Scholz, B; Zara, F; Wolf, P; Kluger, G;
Seizure. 2019; 65:-137
Originalarbeiten (Zeitschrift)
Mitochondrial DNA mutation analysis from exome sequencing-A more holistic approach in diagnostics of suspected mitochondrial disease.
Wagner, M; Berutti, R; Lorenz-Depiereux, B; Graf, E; Eckstein, G; Mayr, JA; Meitinger, T; Ahting, U; Prokisch, H; Strom, TM; Wortmann, SB;
J Inherit Metab Dis. 2019; 42(5): 909-917.
Originalarbeiten (Zeitschrift)
Respiratory-Syncytial-Virus-Prophylaxe mit Palivizumab
Wald, M; Resch, B; Eber, E; Ehringer-Schetitska, D; Kichl-Kohlendorfer, U; Miachel-Behnke, I; Popow-Kraup, T; Seidel, M; Redlberger-Fritz, M; Strenger, V; Zacharasiewicz, A; Berger, A
PÄDIATRIE UND PÄDOLOGIE. 2019; 54: 270-276.
Letter
Obesity, metabolic comorbidities and microbiome modulation in pediatrics
Weghuber, D;
MONATSSCHR KINDERH. 2019; 167(5): 396-403.
Originalarbeiten (Zeitschrift)
Youth-Onset Type 2 Diabetes Manifestations in other Specialties: Its Many Disguises.
Weghuber, D; Barrientos-Perez, M; Kovarenko, M
ANN NUTR METAB. 2019; 74(4): 339-347.
Übersichtsarbeiten
Childhood Obesity: The Need to Translate Research into Daily Practice: Announcing the Annals of Nutrition and Metabolism as the Official Journal of the European Childhood Obesity Group.
Weghuber, D; Boyland, E; Caroli, M; Erhardt, E; Frelut, ML; Forslund, A; Mazur, A; Ring-Dimitriou, S; Vlachopapadopoulou, EA; Thivel, D
ANN NUTR METAB. 2019; 74(1): 80-82.
Editorials
Clinical spectrum of
Wolking, S; May, P; Mei, D; Moller, RS; Balestrini, S; Helbig, KL; Altuzarra, CD; Chatron, N; Kaiwar, C; Stohr, K; Widdess-Walsh, P; Mendelsohn, BA; Numis, A; Cilio, MR; Van Paesschen, W; Svendsen, LL; Oates, S; Hughes, E; Goyal, S; Brown, K; Saenz, MS; Dorn, T; Muhle, H; Pagnamenta, AT; Vavoulis, DV; Knight, SJL; Taylor, JC; Canevini, MP; Darra, F; Gavrilova, RH; Powis, Z; Tang, S; Marquetand, J; Armstrong, M; McHale, D; Klee, EW; Kluger, GJ; Lowenstein, DH; Weckhuysen, S; Pal, DK; Helbig, I; Guerrini, R; Thomas, RH; Rees, MI; Lesca, G; Sisodiya, SM; Weber, YG; Lal, D; Marini, C; Lerche, H; Schubert, J
NEUROLOGY. 2019; 92(11): e1238-e1249.
Originalarbeiten (Zeitschrift)
Choline-related-inherited metabolic diseases-A mini review.
Wortmann, SB; Mayr, JA;
J Inherit Metab Dis. 2019; 42(2):237-242
Originalarbeiten (Zeitschrift)
BOLA (BolA Family Member 3) Deficiency Controls Endothelial Metabolism and Glycine Homeostasis in Pulmonary Hypertension.
Yu, Q; Tai, YY; Tang, Y; Zhao, J; Negi, V; Culley, MK; Pilli, J; Sun, W; Brugger, K; Mayr, J; Saggar, R; Saggar, R; Wallace, WD; Ross, DJ; Waxman, AB; Wendell, SG; Mullett, SJ; Sembrat, J; Rojas, M; Khan, OF; Dahlman, JE; Sugahara, M; Kagiyama, N; Satoh, T; Zhang, M; Feng, N; Gorcsan Iii, J; Vargas, SO; Haley, KJ; Kumar, R; Graham, BB; Langer, R; Anderson, DG; Wang, B; Shiva, S; Bertero, T; Chan, SY;
Circulation. 2019; 139(19): 2238-2255.
Originalarbeiten (Zeitschrift)

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

Mutations in NDUFAF8 cause Leigh syndrome with an isolated complex I deficiency
Alston, CL; Veling, MT; Heidler, J; Taylor, LS; He, L; Broomfield, A; Pavaine, J; Prokisch, H; Wortmann, S; Bonnen, PE; McFarland, R; Wittig, I; Pagliarini, DJ; Taylor, RW
EUR J HUM GENET. 2019; 27: 861-861.
Abstracts (Zeitschrift)
Mutations in NDUFAF8 cause Leigh syndrome with an isolated complex I deficiency
Alston, CL; Veling, MT; Heidler, J; Taylor, LS; He, L; Broomfield, A; Pavaine, J; Prokisch, H; Wortmann, S; Bonnen, PE; McFarland, R; Wittig, I; Pagliarini, DJ; Taylor, RW
EUR J HUM GENET. 2019; 27: 182-183.
Abstracts (Zeitschrift)
School environment and obesity in primary schools. An analysis of the WHO European COSI in Austria
Aufschnaiter, AL; Schindler, K; Fuchs-Neuhold, B; Maruszczak, K; Pail, E; Sulz, I; Weghuber, D
EUR J PUBLIC HEALTH. 2019; 29: 123-123.
Abstracts (Zeitschrift)
A recurrent de novo mutation and a second variant of unknown significance in ZSWIM6 in a boy with severe intellectual disability, microcephaly, strabism and hyperopia
Bader, I; Gamper, A; Preisel, M; Sperl, W; Mayr, J
EUR J HUM GENET. 2019; 27: 956-957.
Abstracts (Zeitschrift)
Efficacy and safety of liraglutide vs placebo in children and adolescents with type 2 diabetes: the ellipse randomised trial results
Barrett, T; Tamborlane, WV; Fainberg, U; Frimer-Larsen, H; Hafez, M; Hale, PM; Jalaludin, MY; Kovarenko, M; Libman, I; Rao, PV; Shehadeh, N; Turan, S; Weghuber, D; Barrientos-Perez, M
DIABETOLOGIA. 2019; 62: S44-S44.
Abstracts (Zeitschrift)
Sudden cardiac death caused by bi-allelic variants in the PPA2 gene
Edwards, M; Wilkinson, S; van den Broek, F; Brett, L; Till, J; Mayr, JA; Homfray, T; Morris-Rosendahl, D
EUR J HUM GENET. 2019; 27: 161-161.
Abstracts (Zeitschrift)
AN INTERIM ANALYSIS OF THE KAMPER AND PKUDOS REGISTRIES: EFFICACY AND SAFETY OF SAPROPTERIN BEFORE AND DURING PREGNANCY
Feillet, F; Ficicioglu, C; Lagler, F; Longo, N; Alm, J; Muntau, A; Burlina, A; Berlanger-Quintana, A; Trefz, F; Jurecki, E; Alvarez, I; Lilienstein, J; Burton, B
MOL GENET METAB. 2019; 127(3): 267-268.
Abstracts (Zeitschrift)
AN INTERIM ANALYSIS OF THE KAMPER AND PKUDOS REGISTRIES: EFFICACY AND SAFETY OF SAPROPTERIN BEFORE AND DURING PREGNANCY
Feillet, F; Ficicioglu, C; Lagler, F; Longo, N; Alm, J; Muntau, A; Burlina, A; Berlanger-Quintana, A; Trefz, F; Jurecki, E; Alvarez, I; Lilienstein, J; Burton, B
MOL GENET METAB. 2019; 126(3): 300-300.
Abstracts (Zeitschrift)
Recessive mutations in UQCRFS1, encoding the Rieske iron-sulfur protein, are associated with mitochondrial complex III deficiency, lactic acidosis and cardiomyopathy
Gusic, M; Schottmann, G; Feichtinger, RG; Wagner, M; Mayr, JA; Du, C; Lee, C; Lorenz, N; Gill, E; Morales-Gonzales, S; Panneman, DM; Rotig, A; Rodenburg, RJT; Wortmann, SB; Prokisch, H; Schuelke, M
EUR J HUM GENET. 2019; 27: 186-186.
Abstracts (Zeitschrift)
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Mastantuono, E; Repp, B; Alston, CL; Schiff, M; Haack, TB; Rotig, A; Ardissone, A; Lombes, A; Catarino, CB; Diodato, D; Schottmann, G; Poulton, J; Burlina, A; Jonckheere, A; Munnich, A; Ghezzi, D; Rokicki, D; Wellesley, D; Martinelli, D; Lamantea, E; Ostergaard, E; Pronicka, E; Pierre, G; Smeets, HJ; Scurr, I; De Coo, IF; Moroni, I; Smet, J; Mayr, JA; De Meirleir, L; Schuelke, M; Zeviani, M; McFarland, R; Seneca, S; Klopstock, T; Meitinger, T; Strom, TM; Herberg, U; Sperl, W; Nassogne, M; Ling, H; Fang, F; Freisinger, P; Van Coster, R; Taylor, RW; Haberle, J; Vockley, J; Prokisch, H; Wortmann, S
EUR J HUM GENET. 2019; 27: 169-169.
Abstracts (Zeitschrift)
The genetic landscape of mitochondrial disease: a study of 1116 exomes
Stenton, SL; Alhaddad, B; Chang, C; Haack, T; Wortmann, S; Mayr, JA; Buchner, B; Hempel, M; Distelmaier, F; Freisinger, P; Makowski, C; Rokicki, D; Taylor, R; Murayama, K; Ghezzi, D; Lamperti, C; Rotig, A; Strom, T; Klopstock, T; Meitinger, T; Prokisch, H
EUR J HUM GENET. 2019; 27: 816-817.
Abstracts (Zeitschrift)
Comparative Socioeconomic Study Of Patients In Germany With Dravet Syndrome, Refractory Epilepsy Or Epilepsy In Seizure Remission, And Their Caregivers
Strzelczyk, A; Schubert-Bast, S; Bast, T; Bettendorf, U; Hamer, HM; Herting, A; Kalski, M; Kay, L; Kieslich, M; Klein, KM; Kluger, G; Kurlemann, G; Mayer, T; Neubauer, BA; Polster, T; von Spiczak, S; Stephani, U; Trollmann, R; Wiemer-Kruel, A; Wolff, M; Irwin, J; Carroll, J; Pritchard, C; Rosenow, F
EPILEPSIA. 2019; 60: 195-196.
Abstracts (Zeitschrift)
A homozygous two exon deletion in UQCRH: matching mouse and human phenotype
Vidali, S; Urquhart, J; Rozman, J; Thompson, K; Sanders, C; Jamson, E; Breen, C; Rathkolb, B; da Silva-Buttkus, P; Marschall, S; Amarie, OV; Aguilar-Pimentel, J; Calzada-Wack, J; Becker, L; Cho, Y; Garrett, L; Holter, SM; Klein-Rodewald, T; Mayer-Kuckuk, P; Treise, I; Zimprich, A; Gampe, K; Leuchtenberger, S; Pfannes, K; Stoger, C; Maier, H; Graw, J; Wurst, W; Hofig, K; Feichtinger, RG; Gartner, U; Szibor, M; Wittig, I; Mayr, JA; Newman, W; Fuchs, H; Taylor, RW; Gailus-Durner, V; Prokisch, H; de Angelis, MH
EUR J HUM GENET. 2019; 27: 818-819.
Abstracts (Zeitschrift)

Originalbeiträge in Sammelwerk (Buchbeitrag)

Energy Metabolism and Metabolic Targeting of Neuroblastoma
Aminzadeh-Gohari, S; Feichtinger, RG; Kofler, B;
In: Swapan, KR; editors(s). Neuroblastoma Molecular Mechanisms and Therapeutic Interventions. Elsevier; p. 113-132. (ISBN: 978-0-12-812005-7)
Mitochondriopathien
Sperl, W; Freisinger, P;
In: Hoffmann, GF; (Hrsg.) editors(s). Pädiatrie. Springer Reference Medizin; (ISBN: 978-3-642-54671-6)
Mitochondriopathien
Sperl, W; Karall, D; Freisinger, P; Mayr, JA;
In: Fuat Aksu (Hrsg.) editors(s). Neuropädiatrie. Uni-Med Verlag AG; p. 455-471. (ISBN: 978-3-8374-1578-0)

2018

Beiträge in Fachzeitschriften

Basal pharmacokinetic parameters of topically applied diacerein in pediatric patients with generalized severe epidermolysis bullosa simplex.
Ablinger, M; Felder, TK; Wimmer, M; Zauner, R; Hofbauer, P; Lettner, T; Wolkersdorfer, M; Lagler, FB; Diem, A; Bauer, JW; Wally, V;
Orphanet J Rare Dis. 2018; 13(1): 193
Letter
PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum.
Alhaddad, B; Schossig, A; Haack, TB; Kovács-Nagy, R; Braunisch, MC; Makowski, C; Senderek, J; Vill, K; Müller-Felber, W; Strom, TM; Krabichler, B; Freisinger, P; Deshpande, C; Polster, T; Wolf, NI; Desguerre, I; Wörmann, F; Rötig, A; Ahting, U; Kopajtich, R; Prokisch, H; Meitinger, T; Feichtinger, RG; Mayr, JA; Jungbluth, H; Hubmann, M; Zschocke, J; Distelmaier, F; Koch, J;
Neuropediatrics. 2018; 49(5):330-338
Originalarbeiten (Zeitschrift)
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.
Alston, CL; Heidler, J; Dibley, MG; Kremer, LS; Taylor, LS; Fratter, C; French, CE; Glasgow, RIC; Feichtinger, RG; Delon, I; Pagnamenta, AT; Dolling, H; Lemonde, H; Aiton, N; Bjørnstad, A; Henneke, L; Gärtner, J; Thiele, H; Tauchmannova, K; Quaghebeur, G; Houstek, J; Sperl, W; Raymond, FL; Prokisch, H; Mayr, JA; McFarland, R; Poulton, J; Ryan, MT; Wittig, I; Henneke, M; Taylor, RW;
Am J Hum Genet. 2018; 103(4):592-601
Originalarbeiten (Zeitschrift)
BARI-AD: Leitlinien-basiertes Interview als Grundlage psychologischer Stellungnahmen vor einem Adipositas-chirurgischen Eingriff bei Adoleszenten
Ardelt-Gattinger, E; Gattinger, E; Andersen, B; Miller, K; Kreuzer, C; Meindl, M; Metzger, R; Ring-Dimitriou, S; Siegfried, W; Studtmann, L; Wabitsch, M; Weiner, S; Brix, J; Weghuber, D;
Adipositas. 2018; 12(03): 134-142.
Originalarbeiten (Zeitschrift)
Repaglinide versus insulin for newly diagnosed diabetes in patients with cystic fibrosis: a multicentre, open-label, randomised trial.
Ballmann, M; Hubert, D; Assael, BM; Staab, D; Hebestreit, A; Naehrlich, L; Nickolay, T; Prinz, N; Holl, RW;
Lancet Diabetes Endocrinol. 2018; 6(2): 114-121.
Originalarbeiten (Zeitschrift) – Beitrag als Studygroup-Member
MRI of the first event in pediatric acquired demyelinating syndromes with antibodies to myelin oligodendrocyte glycoprotein
Baumann, M; Grams, A; Djurdjevic, T; Wendel, EM; Lechner, C; Behring, B; Blaschek, A; Diepold, K; Eisenkolbl, A; Fluss, J; Karenfort, M; Koch, J; Konuskan, B; Leiz, S; Merkenschlager, A; Pohl, D; Schimmel, M; Thiels, C; Kornek, B; Schanda, K; Reindl, M; Rostasy, K
J NEUROL. 2018; 265(4): 845-855.
Originalarbeiten (Zeitschrift)
Left ventricular pumping during the transition-adaptation sequence in preterm infants: impact of the patent ductus arteriosus.
Baumgartner, S; Olischar, M; Wald, M; Werther, T; Berger, A; Waldhör, T; Fischer, G; Salzer-Muhar, U;
Pediatr Res. 2018; 83(5): 1016-1023.
Originalarbeiten (Zeitschrift)
The potential role of gut microbiota and its modulators in the management of propionic and methylmalonic acidemia
Burlina, A; Tims, S; van Spronsen, F; Sperl, W; Burlina, AP; Kuhn, M; Knol, J; Rakhshandehroo, M; Coskun, T; Singh, RH; MacDonald, A
EXPERT OPIN ORPHAN D. 2018; 6(11): 683-692.
Originalarbeiten (Zeitschrift)
Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients.
Coene, KLM; Kluijtmans, LAJ; van der Heeft, E; Engelke, UFH; de Boer, S; Hoegen, B; Kwast, HJT; van de Vorst, M; Huigen, MCDG; Keularts, IMLW; Schreuder, MF; van Karnebeek, CDM; Wortmann, SB; de Vries, MC; Janssen, MCH; Gilissen, C; Engel, J; Wevers, RA
J INHERIT METAB DIS. 2018; 41(3): 337-353.
Originalarbeiten (Zeitschrift)
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.
Danhauser, K; Alhaddad, B; Makowski, C; Piekutowska-Abramczuk, D; Syrbe, S; Gomez-Ospina, N; Manning, MA; Kostera-Pruszczyk, A; Krahn-Peper, C; Berutti, R; Kovács-Nagy, R; Gusic, M; Graf, E; Laugwitz, L; Röblitz, M; Wroblewski, A; Hartmann, H; Das, AM; Bültmann, E; Fang, F; Xu, M; Schatz, UA; Karall, D; Zellner, H; Haberlandt, E; Feichtinger, RG; Mayr, JA; Meitinger, T; Prokisch, H; Strom, TM; Płoski, R; Hoffmann, GF; Pronicki, M; Bonnen, PE; Morlot, S; Haack, TB;
Am J Hum Genet. 2018; 103(5): 817-825.
Originalarbeiten (Zeitschrift)
Effects of galanin receptor 2 and receptor 3 knockout in mouse models of acute seizures.
Drexel, M; Locker, F; Kofler, B; Sperk, G
EPILEPSIA. 2018; 59(11): e166-e171.
Originalarbeiten (Zeitschrift)
Early life programming of attention capacity in adolescents: The HELENA study.
Esteban-Cornejo, I; Henriksson, P; Cadenas-Sanchez, C; Vanhelst, J; Forsner, M; Gottrand, F; Kersting, M; Moreno, LA; Ruiz, JR; Widhalm, K; Ortega, FB;
Matern Child Nutr. 2018; 14(1):
Originalarbeiten (Zeitschrift)
Melanoma tumors exhibit a variable but distinct metabolic signature.
Feichtinger, RG; Lang, R; Geilberger, R; Rathje, F; Mayr, JA; Sperl, W; Bauer, JW; Hauser-Kronberger, C; Kofler, B; Emberger, M;
Exp Dermatol. 2018; 27(2):204-207
Letter
Reduced Levels of ATP Synthase Subunit ATP5F1A Correlate with Earlier-Onset Prostate Cancer.
Feichtinger, RG; Schafer, G; Seifarth, C; Mayr, JA; Kofler, B; Klocker, H
OXID MED CELL LONGEV. 2018; 2018: 1347174
Originalarbeiten (Zeitschrift)
Leuwaldhof - For a Life After Cancer
Fischmeister, G; Sperl, W
PADIATR PADOL. 2018; 53(5): 231-234.
Originalarbeiten (Zeitschrift)
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.
Gardeitchik, T; Mohamed, M; Ruzzenente, B; Karall, D; Guerrero-Castillo, S; Dalloyaux, D; van den Brand, M; van Kraaij, S; van Asbeck, E; Assouline, Z; Rio, M; de Lonlay, P; Scholl-Buergi, S; Wolthuis, DFGJ; Hoischen, A; Rodenburg, RJ; Sperl, W; Urban, Z; Brandt, U; Mayr, JA; Wong, S; de Brouwer, APM; Nijtmans, L; Munnich, A; Rötig, A; Wevers, RA; Metodiev, MD; Morava, E;
Am J Hum Genet. 2018; 102(4): 685-695.
Originalarbeiten (Zeitschrift)
A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.
Giunta, C; Baumann, M; Fauth, C; Lindert, U; Abdalla, EM; Brady, AF; Collins, J; Dastgir, J; Donkervoort, S; Ghali, N; Johnson, DS; Kariminejad, A; Koch, J; Kraenzlin, M; Lahiri, N; Lozic, B; Manzur, AY; Morton, JEV; Pilch, J; Pollitt, RC; Schreiber, G; Shannon, NL; Sobey, G; Vandersteen, A; van Dijk, FS; Witsch-Baumgartner, M; Zschocke, J; Pope, FM; Bonnemann, CG; Rohrbach, M
GENET MED. 2018; 20(1): 42-54.
Originalarbeiten (Zeitschrift)
Pediatric Klüver-Bucy Syndrome: Report of Two Cases and Review of the Literature.
Kluger, G; Romein, E; Hessenauer, M; Pringsheim, M; Berweck, S
NEUROPEDIATRICS. 2018; 49(5): 353-354.
Letter
HTRA2 Defect: A Recognizable Inborn Error of Metabolism with 3-Methylglutaconic Aciduria as Discriminating Feature Characterized by Neonatal Movement Disorder and Epilepsy-Report of 11 Patients.
Kovacs-Nagy, R; Morin, G; Nouri, MA; Brandau, O; Saadi, NW; Nouri, MA; van den Broek, F; Prokisch, H; Mayr, JA; Wortmann, SB;
Neuropediatrics. 2018; 49(6):373-378
Originalarbeiten (Zeitschrift)
"Transcriptomics": molecular diagnosis of inborn errors of metabolism via RNA-sequencing.
Kremer, LS; Wortmann, SB; Prokisch, H
J INHERIT METAB DIS. 2018; 41(3): 525-532.
Originalarbeiten (Zeitschrift)
Lack of Galanin Receptor 3 Alleviates Psoriasis by Altering Vascularization, Immune Cell Infiltration, and Cytokine Expression.
Locker, F; Vidali, S; Holub, BS; Stockinger, J; Brunner, SM; Ebner, S; Koller, A; Trost, A; Reitsamer, HA; Schwarzenbacher, D; Lang, R; Kofler, B;
J Invest Dermatol. 2018; 138(1):199-207
Originalarbeiten (Zeitschrift)
Pompe disease in Austria: clinical, genetic and epidemiological aspects.
Loscher, WN; Huemer, M; Stulnig, TM; Simschitz, P; Iglseder, S; Eggers, C; Moser, H; Moslinger, D; Freilinger, M; Lagler, F; Grinzinger, S; Reichhardt, M; Bittner, RE; Schmidt, WM; Lex, U; Brunner-Krainz, M; Quasthoff, S; Wanschitz, JV
J NEUROL. 2018; 265(1): 159-164.
Originalarbeiten (Zeitschrift)
Seizure Freedom in Patients with Dravet Syndrome with Contraceptives: A Case Report with Two Patients
Lotte, J; Grothe, S; Kluger, GJ
NEUROPEDIATRICS. 2018; 49(4): 276-278.
Fallberichte
Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.
Lotz-Havla, AS; Röschinger, W; Schiergens, K; Singer, K; Karall, D; Konstantopoulou, V; Wortmann, SB; Maier, EM;
Orphanet J Rare Dis. 2018; 13(1): 122
Originalarbeiten (Zeitschrift)
Reviewing and addressing the link between mass media and the increase in obesity among European children: The European Academy of Paediatrics (EAP) and The European Childhood Obesity Group (ECOG) consensus statement.
Mazur, A; Caroli, M; Radziewicz-Winnicki, I; Nowicka, P; Weghuber, D; Neubauer, D; Dembiński, Ł; Crawley, FP; White, M; Hadjipanayis, A;
Acta Paediatr. 2018; 107(4): 568-576.
Originalarbeiten (Zeitschrift)
Bi-allelic mutations in
Milev, MP; Graziano, C; Karall, D; Kuper, WFE; Al-Deri, N; Cordelli, DM; Haack, TB; Danhauser, K; Iuso, A; Palombo, F; Pippucci, T; Prokisch, H; Saint-Dic, D; Seri, M; Stanga, D; Cenacchi, G; van Gassen, KLI; Zschocke, J; Fauth, C; Mayr, JA; Sacher, M; van Hasselt, PM;
J Med Genet. 2018; 55(11): 753-764.
Originalarbeiten (Zeitschrift)
FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.
Mitter, D; Pringsheim, M; Kaulisch, M; Plümacher, KS; Schröder, S; Warthemann, R; Abou Jamra, R; Baethmann, M; Bast, T; Büttel, HM; Cohen, JS; Conover, E; Courage, C; Eger, A; Fatemi, A; Grebe, TA; Hauser, NS; Heinritz, W; Helbig, KL; Heruth, M; Huhle, D; Höft, K; Karch, S; Kluger, G; Korenke, GC; Lemke, JR; Lutz, RE; Patzer, S; Prehl, I; Hoertnagel, K; Ramsey, K; Rating, T; Rieß, A; Rohena, L; Schimmel, M; Westman, R; Zech, FM; Zoll, B; Malzahn, D; Zirn, B; Brockmann, K;
Genet Med. 2018; 20(1): 98-108.
Originalarbeiten (Zeitschrift)
Clustering of multiple energy balance related behaviors is associated with body fat composition indicators in adolescents: Results from the HELENA and ELANA studies.
Moreira, NF; da Veiga, GV; Santaliestra-Pasías, AM; Androutsos, O; Cuenca-García, M; de Oliveira, ASD; Pereira, RA; de Moraes, ABV; Van den Bussche, K; Censi, L; González-Gross, M; Cañada, D; Gottrand, F; Kafatos, A; Marcos, A; Widhalm, K; Mólnar, D; Moreno, LA;
Appetite. 2018; 120: 50-513.
Originalarbeiten (Zeitschrift)
Mitochondrial translation requires folate-dependent tRNA methylation.
Morscher, RJ; Ducker, GS; Li, SH; Mayer, JA; Gitai, Z; Sperl, W; Rabinowitz, JD;
Nature. 2018; 554(7690): 128-132.
Letter
Identifying the educational needs of physicians in pediatric epilepsy in order to improve care: results from a needs assessment in Germany, Spain, and the United States.
Murray, S; Labbe, S; Kothare, S; Malaga, I; Kluger, G; Ogden, P; Lazure, P; Arzimanoglou, A
EPILEPTIC DISORD. 2018; 20(4): 239-256.
Originalarbeiten (Zeitschrift)
Mitochondrial DNA mutation "m.3243A>G"-Heterogeneous clinical picture for cardiologists ("m.3243A>G": A phenotypic chameleon).
Niedermayr, K; Pölzl, G; Scholl-Bürgi, S; Fauth, C; Schweigmann, U; Haberlandt, E; Albrecht, U; Zlamy, M; Sperl, W; Mayr, JA; Karall, D;
Congenit Heart Dis. 2018; 13(5):671-677
Originalarbeiten (Zeitschrift)
The genotypic and phenotypic spectrum of MTO1 deficiency.
OByrne, JJ; Tarailo-Graovac, M; Ghani, A; Champion, M; Deshpande, C; Dursun, A; Ozgul, RK; Freisinger, P; Garber, I; Haack, TB; Horvath, R; Barić, I; Husain, RA; Kluijtmans, LAJ; Kotzaeridou, U; Morris, AA; Ross, CJ; Santra, S; Smeitink, J; Tarnopolsky, M; Wortmann, SB; Mayr, JA; Brunner-Krainz, M; Prokisch, H; Wasserman, WW; Wevers, RA; Engelke, UF; Rodenburg, RJ; Ting, TW; McFarland, R; Taylor, RW; Salvarinova, R; van Karnebeek, CDM;
Mol Genet Metab. 2018; 123(1): 28-42.
Originalarbeiten (Zeitschrift)
Molecular structural diversity of mitochondrial cardiolipins.
Oemer, G; Lackner, K; Muigg, K; Krumschnabel, G; Watschinger, K; Sailer, S; Lindner, H; Gnaiger, E; Wortmann, SB; Werner, ER; Zschocke, J; Keller, MA;
Proc Natl Acad Sci U S A. 2018; 115(16):4158-4163
Originalarbeiten (Zeitschrift)
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
Oláhová, M; Yoon, WH; Thompson, K; Jangam, S; Fernandez, L; Davidson, JM; Kyle, JE; Grove, ME; Fisk, DG; Kohler, JN; Holmes, M; Dries, AM; Huang, Y; Zhao, C; Contrepois, K; Zappala, Z; Frésard, L; Waggott, D; Zink, EM; Kim, YM; Heyman, HM; Stratton, KG; Webb-Robertson, BM; Snyder, M; Merker, JD; Montgomery, SB; Fisher, PG; Feichtinger, RG; Mayr, JA; Hall, J; Barbosa, IA; Simpson, MA; Deshpande, C; Waters, KM; Koeller, DM; Metz, TO; Morris, AA; Schelley, S; Cowan, T; Friederich, MW; McFarland, R; Van Hove, JLK; Enns, GM; Yamamoto, S; Ashley, EA; Wangler, MF; Taylor, RW; Bellen, HJ; Bernstein, JA; Wheeler, MT;
Am J Hum Genet. 2018; 102(3): 494-504.
Originalarbeiten (Zeitschrift)
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.
Piekutowska-Abramczuk, D; Assouline, Z; Mataković, L; Feichtinger, RG; Koňařiková, E; Jurkiewicz, E; Stawiński, P; Gusic, M; Koller, A; Pollak, A; Gasperowicz, P; Trubicka, J; Ciara, E; Iwanicka-Pronicka, K; Rokicki, D; Hanein, S; Wortmann, SB; Sperl, W; Rötig, A; Prokisch, H; Pronicka, E; Płoski, R; Barcia, G; Mayr, JA;
Am J Hum Genet. 2018; 102(3):460-467
Originalarbeiten (Zeitschrift)
A survey of medicine use in children and adolescents in Austria.
Rauch, E; Lagler, FB; Herkner, H; Gall, W; Sauermann, R; Hetz, S; Male, C
EUR J PEDIATR. 2018; 177(10): 1479-1487.
Originalarbeiten (Zeitschrift)
Non-Celiac Gluten-/Wheat Sensitivity (NCGS) - A previously undefined Symptoms with lack of Diagnostic Criteria and unknown Frequency Position Paper of the Working Group Food Allergy of the German Society of Allergology and clinical Immunology (DGAKI)
Reese, I; Schafer, C; Kleine-Tebbe, J; Ahrens, B; Bachmann, O; Ballmer-Weber, B; Beyer, K; Bischoff, SC; Blumchen, K; Dolle, S; Enck, P; Enninger, A; Huttegger, I; Lammel, S; Lange, L; Lepp, U; Mahler, V; Monnikes, H; Ockenga, J; Otto, B; Schnadt, S; Szepfalusi, Z; Treudler, R; Wassmann-Otto, A; Zuberbier, T; Werfel, T; Worm, M
ERNAHRUNGS UMSCHAU. 2018; 65(11): M634-M638.
Originalarbeiten (Zeitschrift)
Non-celiac gluten/wheat sensitivity (NCGS)-a currently undefined disorder without validated diagnostic criteria and of unknown prevalence: Position statement of the task force on food allergy of the German Society of Allergology and Clinical Immunology (DGAKI).
Reese, I; Schäfer, C; Kleine-Tebbe, J; Ahrens, B; Bachmann, O; Ballmer-Weber, B; Beyer, K; Bischoff, SC; Blümchen, K; Dölle, S; Enck, P; Enninger, A; Huttegger, I; Lämmel, S; Lange, L; Lepp, U; Mahler, V; Mönnikes, H; Ockenga, J; Otto, B; Schnadt, S; Szepfalusi, Z; Treudler, R; Wassmann-Otto, A; Zuberbier, T; Werfel, T; Worm, M;
Allergo J Int. 2018; 27(5): 147-151.
Originalarbeiten (Zeitschrift)
Non-Celiac Gluten/Wheat Sensitivity (NCGS) - a Currently Undefined DisorderWithout Validated Diagnostic Criteria and of Unknown Prevalence Position Statement of the Task Force on Food Allergy of the German Society of Allergology and Clinical Immunology (DGAKI)
Reese, M; Schafer, C; Kleine-Tebbe, J; Ahrens, B; Bachmann, O; Ballmer-Weber, B; Beyers, K; Bischoffs, SC; Blomchen, K; Dolle, S; Enck, P; Enninger, A; Huttegger, I; Lammel, S; Lange, L; Lepp, U; Mahler, V; Monnikes, H; Ockenga, J; Otto, B; Schnadt, S; Szepfalusi, Z; Treudier, R; Wassmann-Otto, A; Zuberbier, T; Werfe, T; Worm, M
AKTUEL ERNAHRUNGSMED. 2018; 43(6): 479-483.
Übersichtsarbeiten
Leptin and adiposity as mediators on the association between early puberty and several biomarkers in European adolescents: the HELENA Study.
Rendo-Urteaga, T; Ferreira de Moraes, AC; Torres-Leal, FL; Manios, Y; Gottand, F; Sjöström, M; Kafatos, A; Widhalm, K; De Henauw, S; Molnár, D; Marcos, A; González-Gross, M; Ferrari, M; Carvalho, HB; Moreno, LA;
J Pediatr Endocrinol Metab. 2018; 31(11): 1221-1229.
Originalarbeiten (Zeitschrift)
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Repp, BM; Mastantuono, E; Alston, CL; Schiff, M; Haack, TB; Rötig, A; Ardissone, A; Lombès, A; Catarino, CB; Diodato, D; Schottmann, G; Poulton, J; Burlina, A; Jonckheere, A; Munnich, A; Rolinski, B; Ghezzi, D; Rokicki, D; Wellesley, D; Martinelli, D; Wenhong, D; Lamantea, E; Ostergaard, E; Pronicka, E; Pierre, G; Smeets, HJM; Wittig, I; Scurr, I; de Coo, IFM; Moroni, I; Smet, J; Mayr, JA; Dai, L; de Meirleir, L; Schuelke, M; Zeviani, M; Morscher, RJ; McFarland, R; Seneca, S; Klopstock, T; Meitinger, T; Wieland, T; Strom, TM; Herberg, U; Ahting, U; Sperl, W; Nassogne, MC; Ling, H; Fang, F; Freisinger, P; Van Coster, R; Strecker, V; Taylor, RW; Häberle, J; Vockley, J; Prokisch, H; Wortmann, S;
Orphanet J Rare Dis. 2018; 13(1): 120
Originalarbeiten (Zeitschrift)
SALTO - Study Protocol and Rationale of a Community-Oriented Obesity Prevention Program in the Kindergarten
Ring-Dimitriou, S; Freudenthaler, T; Aistleitner, V; Horvath, G; Stallinger, J; Dimitriou, M; Ardelt-Gattinger, E; Weghuber, D
OBESITY FACTS. 2018; 11(3): 234-246.
Originalarbeiten (Zeitschrift)
SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family.
Roeben, B; Schüle, R; Ruf, S; Bender, B; Alhaddad, B; Benkert, T; Meitinger, T; Reich, S; Böhringer, J; Langhans, CD; Vaz, FM; Wortmann, SB; Marquardt, T; Haack, TB; Krägeloh-Mann, I; Schöls, L; Synofzik, M;
J Med Genet. 2018; 55(1):39-47
Originalarbeiten (Zeitschrift)
Benchmarking of Four Near Infrared Spectroscopy Devices for Long Time Use in Neonates.
Schneider, A; Hofstätter, E; Brandner, J; Moder, A; Häusler, S; Wald, M;
Klin Padiatr. 2018; 230(5): 240-244.
Originalarbeiten (Zeitschrift)
Atopic Dermatitis in an exclusively Breast Fed Infant and vegan Nutrition of the Mother Exacerbation of Symptoms and clear Reduction in the General Condition
Schneider, A; Seidl, M; Radauer, W; Paulmichl, K; Sperl, W; Weghuber, D
MONATSSCHR KINDERH. 2018; 166(2): 96-100.
Fallberichte
Vedolizumab use after failure of TNF-α antagonists in children and adolescents with inflammatory bowel disease.
Schneider, AM; Weghuber, D; Hetzer, B; Entenmann, A; Müller, T; Zimmermann, G; Schütz, S; Huber, WD; Pichler, J;
BMC Gastroenterol. 2018; 18(1):140
Originalarbeiten (Zeitschrift)
Care of healthy newborn infants in the delivery room and nursery. Recommendations of the Working Group Neonatology and Pediatric Intensive Care Medicine of the Austrian Society for Pediatric and Adolescent Medicine (OGKJ)
Simma, B; Kiechl-Kohlendorfer, U; Wald, M; Weissensteiner, M; Urlesberger, B; Berger, A
MONATSSCHR KINDERH. 2018; 166(9): 808-813.
Originalarbeiten (Zeitschrift)
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Snijders Blok, L; Rousseau, J; Twist, J; Ehresmann, S; Takaku, M; Venselaar, H; Rodan, LH; Nowak, CB; Douglas, J; Swoboda, KJ; Steeves, MA; Sahai, I; Stumpel, CTRM; Stegmann, APA; Wheeler, P; Willing, M; Fiala, E; Kochhar, A; Gibson, WT; Cohen, ASA; Agbahovbe, R; Innes, AM; Au, PYB; Rankin, J; Anderson, IJ; Skinner, SA; Louie, RJ; Warren, HE; Afenjar, A; Keren, B; Nava, C; Buratti, J; Isapof, A; Rodriguez, D; Lewandowski, R; Propst, J; van Essen, T; Choi, M; Lee, S; Chae, JH; Price, S; Schnur, RE; Douglas, G; Wentzensen, IM; Zweier, C; Reis, A; Bialer, MG; Moore, C; Koopmans, M; Brilstra, EH; Monroe, GR; van Gassen, KLI; van Binsbergen, E; Newbury-Ecob, R; Bownass, L; Bader, I; Mayr, JA; Wortmann, SB; Jakielski, KJ; Strand, EA; Kloth, K; Bierhals, T; Roberts, JD; Petrovich, RM; Machida, S; Kurumizaka, H; Lelieveld, S; Pfundt, R; Jansen, S; Deriziotis, P; Faivre, L; Thevenon, J; Assoum, M; Shriberg, L; Kleefstra, T; Brunner, HG; Wade, PA; Fisher, SE; Campeau, PM;
Nat Commun. 2018; 9(1):4619
Originalarbeiten (Zeitschrift)
High DPP-4 Concentrations in Adolescents Are Associated With Low Intact GLP-1.
Stenlid, R; Manell, H; Halldin, M; Kullberg, J; Ahlstrom, H; Manukyan, L; Weghuber, D; Paulmichl, K; Zsoldos, F; Bergsten, P; Forslund, A
J CLIN ENDOCR METAB. 2018; 103(8): 2958-2966.
Originalarbeiten (Zeitschrift)
Effects of Levetiracetam and Sulthiame on EEG in benign epilepsy with centrotemporal spikes: A randomized controlled trial.
Tacke, M; Borggraefe, I; Gerstl, L; Heinen, F; Vill, K; Bonfert, M; Bast, T; Neubauer, BA; Baumeister, F; Baethmann, M; Bentele, K; Blank, C; Blank, HM; Bode, H; Bosch, F; Brandl, U; Brockmann, K; Dahlem, P; Ernst, JP; Feldmann, E; Fiedler, A; Gerigk, M; Hess, S; Hikel, C; Hoffmann, HG; Kieslich, M; Klepper, J; Kluger, G; Koch, H; Koch, W; Korinthenberg, R; Krois, I; Kuhne, H; Kurlemann, G; Mandl, M; Mause, U; Navratil, P; Opp, J; Penzien, J; Prietsch, V; Quattlander, A; Rating, D; Schara, U; Shamdeen, MG; Sprinz, A; Wendker-Magrabi, H; Stephani, U; Muhle, H; Strassburg, HM; Topke, B; Trollmann, R; Tuschen-Hofstatter, E; Waltz, S; Weber, G; Wien, FU; Wolffxxx, M; Polster, T; Freitag, H; Sonmez, O; Reinhardt, K; Traus, M; Hoovey, Z
SEIZURE-EUR J EPILEP. 2018; 56: 115-120.
Originalarbeiten (Zeitschrift)
Benign epilepsy with centrotemporal spikes: Correlating spike frequency and neuropsychology.
Tacke, M; Rupp, N; Gerstl, L; Heinen, F; Vill, K; Bonfert, M; Neubauer, BA; Bast, T; Borggraefe, I;
Acta Neurol Scand. 2018; 138(6): 475-481.
Originalarbeiten (Zeitschrift) – Beitrag als Studygroup-Member
Results from the 5-year SQ grass sublingual immunotherapy tablet asthma prevention (GAP) trial in children with grass pollen allergy.
Valovirta, E; Petersen, TH; Piotrowska, T; Laursen, MK; Andersen, JS; Sørensen, HF; Klink, R;
J Allergy Clin Immunol. 2018; 141(2): 529-538.e13.
Originalarbeiten (Zeitschrift) – Beitrag als Studygroup-Member
Question 1: How safe are ACE inhibitors for heart failure in children?
van der Meulen, M; Dalinghaus, M; Burch, M; Szatmari, A; Diez, CC; Khalil, F; Swoboda, V; Breur, J; Bajcetic, M; Jovanovic, I; Lagler, FB; Klingmann, I; Laeer, S; de Wildt, SN
ARCH DIS CHILD. 2018; 103(1): 106-109.
Letter
The role of the clinician in the multi-omics era: are you ready?
van Karnebeek, CDM; Wortmann, SB; Tarailo-Graovac, M; Langeveld, M; Ferreira, CR; van de Kamp, JM; Hollak, CE; Wasserman, WW; Waterham, HR; Wevers, RA; Haack, TB; Wanders, RJA; Boycott, KM
J INHERIT METAB DIS. 2018; 41(3): 571-582.
Originalarbeiten (Zeitschrift)
Adolescents diet quality in relation to their relatives and peers diet engagement and encouragement: the Healthy Lifestyle in Europe by Nutrition in Adolescence (HELENA) study.
Vanhelst, J; Béghin, L; Drumez, E; Duhamel, A; De Henauw, S; Ruiz, JR; Kafatos, A; Manios, Y; Widhalm, K; Mauro, B; Sjöström, M; Kersting, M; Gottrand, F;
Public Health Nutr. 2018; 21(17): 3192-3201.
Originalarbeiten (Zeitschrift)
Physical activity awareness of European adolescents: The HELENA study.
Vanhelst, J; Béghin, L; Duhamel, A; De Henauw, S; Ruiz, JR; Kafatos, A; Manios, Y; Widhalm, K; Mauro, B; Sjöström, M; Gottrand, F;
J Sports Sci. 2018; 36(5): 558-564.
Originalarbeiten (Zeitschrift)
Biallelic Mutations in SLC1A2; an Additional Mode of Inheritance for SLC1A2-Related Epilepsy.
Wagner, M; Gusic, M; Günthner, R; Alhaddad, B; Kovacs-Nagy, R; Makowski, C; Baumeister, F; Strom, T; Meitinger, T; Prokisch, H; Wortmann, SB;
Neuropediatrics. 2018; 49(1):59-62
Originalarbeiten (Zeitschrift)
Severe DGUOK Deficiency in Austria: A Six-Patient Series.
Waich, S; Roscher, A; Brunner-Krainz, M; Cortina, G; Köstl, G; Feichtinger, RG; Entenmann, A; Müller, T; Knisely, AS; Mayr, JA; Janecke, AR; Vodopiutz, J;

Originalarbeiten (Zeitschrift)
Diacerein orphan drug development for epidermolysis bullosa simplex: A phase 2/3 randomized, placebo-controlled, double-blind clinical trial.
Wally, V; Hovnanian, A; Ly, J; Buckova, H; Brunner, V; Lettner, T; Ablinger, M; Felder, TK; Hofbauer, P; Wolkersdorfer, M; Lagler, FB; Hitzl, W; Laimer, M; Kitzmüller, S; Diem, A; Bauer, JW;
J Am Acad Dermatol. 2018; 78(5): 892-901.e7.
Originalarbeiten (Zeitschrift)
Ketogenic diet in cancer therapy.
Weber, DD; Aminazdeh-Gohari, S; Kofler, B;
Aging (Albany NY). 2018; 10(2):164-165
Editorials
Absence Seizures as a Feature of Juvenile Myoclonic Epilepsy in Rhodesian Ridgeback Dogs.
Wielaender, F; James, FMK; Cortez, MA; Kluger, G; Neßler, JN; Tipold, A; Lohi, H; Fischer, A;
J Vet Intern Med. 2018; 32(1):428-432
Fallberichte
Applied genetics in pediatrics
Wortmann, SB; Duba, HC
MONATSSCHR KINDERH. 2018; 166(9): 774-783.
Originalarbeiten (Zeitschrift)
Next-Generation Sequencing: Next-Generation Quality in Pediatrics
Wortmann, SB; Spenger, J; Preisel, M; Koch, J; Rauscher, C; Bader, I; Mayr, JA; Sperl, W
PADIATR PADOL. 2018; 53(6): 278-283.
Originalarbeiten (Zeitschrift)
Neurologic phenotypes associated with
Zagaglia, S; Selch, C; Nisevic, JR; Mei, D; Michalak, Z; Hernandez-Hernandez, L; Krithika, S; Vezyroglou, K; Varadkar, SM; Pepler, A; Biskup, S; Leão, M; Gärtner, J; Merkenschlager, A; Jaksch, M; Møller, RS; Gardella, E; Kristiansen, BS; Hansen, LK; Vari, MS; Helbig, KL; Desai, S; Smith-Hicks, CL; Hino-Fukuyo, N; Talvik, T; Laugesaar, R; Ilves, P; Õunap, K; Körber, I; Hartlieb, T; Kudernatsch, M; Winkler, P; Schimmel, M; Hasse, A; Knuf, M; Heinemeyer, J; Makowski, C; Ghedia, S; Subramanian, GM; Striano, P; Thomas, RH; Micallef, C; Thom, M; Werring, DJ; Kluger, GJ; Cross, JH; Guerrini, R; Balestrini, S; Sisodiya, SM;
Neurology. 2018; 91(22):e207-e2088
Originalarbeiten (Zeitschrift)
Alterations of Oxidative Phosphorylation Complexes in Papillary Thyroid Carcinoma.
Zimmermann, FA; Neureiter, D; Sperl, W; Mayr, JA; Kofler, B;
Cells. 2018; 7(5):
Originalarbeiten (Zeitschrift)

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

TAILORED SIMULATION TRAINING AS AN INNOVATIVE TRAINING CONCEPT TO FACILITATE SUCCESSFUL STUDY CONDUCT AND RECRUITMENT.
Burckhardt, BB; Ciplea, AM; Laven, A; Kleine, K; Ablonczy, L; Breur, JM; Dalinghaus, M; van der Meulen, M; Klingmann, I; Spatenkova, L; Swoboda, V; Bajcetic, M; Keatley-Clark, A; Laeer, S; Lagler, FB
CLIN PHARMACOL THER. 2018; 103: S61-S61.
Abstracts (Zeitschrift)
Infusion-related reactions in patients with mucopolysaccharidosis type II on idursulfase enrolled in the Hunter Outcome Survey (HOS)
Burton, BK; Lampe, C; Lagler, FB; Botha, J; Whiteman, DAH
MOL GENET METAB. 2018; 123(2): S27-S27.
Abstracts (Zeitschrift)
Chewing Induced Reflex Seizures ("Eating Epilepsy") as A New Additional Clinical Feature in Pediatric Patients with SYNGAP1 Mutations? Review of Literature and Case Report
Eschermann, K; Kiwull, L; Stulpnagel, CV; Hartlieb, T; Kluger, F; Kluger, G
EPILEPSIA. 2018; 59: S293-S293.
Abstracts (Zeitschrift)
AN INTERIM ANALYSIS OF THE KUVAN (R) ADULT MATERNAL PAEDIATRIC EUROPEAN REGISTRY (KAMPER) AND PHENYLKETONURIA DEVELOPMENTAL OUTCOMES AND SAFETY (PKUDOS) REGISTRIES: PREGNANCIES
Feillet, F; Ficicioglu, C; Lagler, FB; Longo, N; Alm, J; Muntau, AC; Burlina, A; Belanger-Quintana, A; Trefz, FK; Kittus, R; Jurecki, ER; Alvarez, I; Lilienstein, J; Burton, B
MOL GENET METAB. 2018; 123(3): 230-230.
Abstracts (Zeitschrift)
Histopathology And Mri Findings In Two Children With COL4A1/-2 Mutation Related Epilepsy
Koerber, I; Kudernatsch, M; Hartlieb, T; Selch, C; Sisodiya, S; Coras, R; Blumcke, I; Winkler, P; Berweck, S; Kluger, G
EPILEPSIA. 2018; 59: S188-S188.
Abstracts (Zeitschrift)
SEVENTH INTERIM ANALYSIS OF THE KUVAN (R) ADULT MATERNAL PAEDIATRIC EUROPEAN REGISTRY (KAMPER): INTERIM RESULTS IN PHENYLKETONURIA PATIENTS
Muntau, AC; Lagler, FB; Feillet, F; Alm, J; Burlina, A; Belanger-Quintana, A; Alvarez, I; Lilienstein, J; Jurecki, E; Kittus, R; Trefz, FK; van Spronsen, FJ
MOL GENET METAB. 2018; 123(3): 253-254.
Abstracts (Zeitschrift)
BMI z-score trajectories in youth with type 1 diabetes: an international analysis from Australia, Germany/Austria and USA
Schwandt, A; Foster, N; Phelan, H; Steigleder-Schweiger, C; Wu, M; Couper, JJ; Kroschwald, P; Willi, SM; Jones, TW; Prinz, N; Maahs, D; Craig, ME
DIABETOLOGIA. 2018; 61: S140-S140.
Abstracts (Zeitschrift)
Brain imaging in classic nonketotic hyperglycinemia
Stence, NV; Fenton, LZ; Palmer, C; Tong, SH; Coughlin, CR; Hennermann, J; Wortmann, SB; Van Hove, JLK
MOL GENET METAB. 2018; 123(3): 266-267.
Abstracts (Zeitschrift)
SEVENTH INTERIM ANALYSIS OF THE KUVAN ADULT MATERNAL PAEDIATRIC EUROPEAN REGISTRY (KAMPER): INTERIM RESULTS IN BH4 DEFICIENCY PATIENTS
van Spronsen, FJ; Burlina, A; Alma, J; Belanger-Quintana, A; Feillet, F; Lagler, FB; Muntau, A; Trefz, FK; Jurecki, ER; Kittus, R; Alvarez, I
MOL GENET METAB. 2018; 123(3): 272-272.
Abstracts (Zeitschrift)
Metformin exerts anti-neoplastic effects against human and murine squamous cell carcinoma
Welponer, T; Trattner, L; Bauer, JW; Reichelt, J; Kofler, B; Hofbauer, JP; Guttmann-Gruber, C
J INVEST DERMATOL. 2018; 138(5): S84-S84.
Abstracts (Zeitschrift)
BMI Z-Score Trajectories in Youth with T1D-An International Comparison
Wu, MD; Phelan, H; Schwandt, A; Foster, NC; Couper, J; Steigleder-Schweiger, C; Willi, SM; Jones, T; Kroschwald, P; Maahs, DM; Prinz, N; Craig, ME
DIABETES. 2018; 67:
Abstracts (Zeitschrift)

Originalbeiträge in Sammelwerk (Buchbeitrag)

Metabolische Azidose und Alkalose.
Sperl, W;
In: Michalk, D; Schönau, E (Hrsg.) editors(s). Differenzialdiagnose Pädiatrie. Elsevier; p. 624-631. (ISBN: 978-3-437-22532-1)
Kapitel zu Epilepsie nach kindlichem Schlaganfall
von Stülpnagel-Steinbeis, C;
In: Gerstl und Ingo Borggräfe (Hrsg) editors(s). Pediatric Stroke Manual (Pädiatrische Neurologie) Lucia.

2017

Beiträge in Fachzeitschriften

Impact of Disseminated Neuroblastoma Cells on the Identification of the Relapse-Seeding Clone.
Abbasi, MR; Rifatbegovic, F; Brunner, C; Mann, G; Ziegler, A; Potschger, U; Crazzolara, R; Ussowicz, M; Benesch, M; Ebetsberger-Dachs, G; Chan, GCF; Jones, N; Ladenstein, R; Ambros, IM; Ambros, PF
CLIN CANCER RES. 2017; 23(15): 4224-4232.
Originalarbeiten (Zeitschrift)
A ketogenic diet supplemented with medium-chain triglycerides enhances the anti-tumor and anti-angiogenic efficacy of chemotherapy on neuroblastoma xenografts in a CD1-nu mouse model
Aminzadeh-Gohari, S; Feichtinger, RG; Vidali, S; Locker, F; Rutherford, T; O'Donnel, M; Stoger-Kleiber, A; Mayr, JA; Sperl, W; Kofler, B
ONCOTARGET. 2017; 8(39): 64728-64744.
Originalarbeiten (Zeitschrift)
Primary Care of Preterm Infants at the Lower Margin of Viability
Berger, A; Kiechl-Kohlendorfer, U; Berger, J; Dilch, A; Kletecka-Pulker, M; Urlesberger, B; Wald, M; Weissensteiner, M; Salzer, H
MONATSSCHR KINDERH. 2017; 165(2): 139-147.
Originalarbeiten (Zeitschrift)
Early seizures predict the development of epilepsy in children and adolescents with stroke.
Breitweg, I; Stülpnagel, CV; Pieper, T; Lidzba, K; Holthausen, H; Staudt, M; Kluger, G;
Eur J Paediatr Neurol. 2017; 21(3): 465-467.
Originalarbeiten (Zeitschrift)
Prevalence of Metabolically Healthy but Overweight/Obese Phenotype and Its Association With Sedentary Time, Physical Activity, and Fitness.
Cadenas-Sanchez, C; Ruiz, JR; Labayen, I; Huybrechts, I; Manios, Y; Gonzalez-Gross, M; Breidenassel, C; Kafatos, A; De Henauw, S; Vanhelst, J; Widhalm, K; Molnar, D; Bueno, G; Censi, L; Plada, M; Sjostrom, M; Moreno, LA; Castillo, MJ; Ortega, FB
J ADOLESCENT HEALTH. 2017; 61(1): 107-114.
Originalarbeiten (Zeitschrift)
Fitness and fatness in relation with attention capacity in European adolescents: The HELENA study.
Cadenas-Sanchez, C; Vanhelst, J; Ruiz, JR; Castillo-Gualda, R; Libuda, L; Labayen, I; De Miguel-Etayo, P; Marcos, A; Molnár, E; Catena, A; Moreno, LA; Sjöström, M; Gottrand, F; Widhalm, K; Ortega, FB;
J Sci Med Sport. 2017; 20(4): 373-379.
Originalarbeiten (Zeitschrift)
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
Depienne, C; Nava, C; Keren, B; Heide, S; Rastetter, A; Passemard, S; Chantot-Bastaraud, S; Moutard, ML; Agrawal, PB; VanNoy, G; Stoler, JM; Amor, DJ; Billette de Villemeur, T; Doummar, D; Alby, C; Cormier-Daire, V; Garel, C; Marzin, P; Scheidecker, S; de Saint-Martin, A; Hirsch, E; Korff, C; Bottani, A; Faivre, L; Verloes, A; Orzechowski, C; Burglen, L; Leheup, B; Roume, J; Andrieux, J; Sheth, F; Datar, C; Parker, MJ; Pasquier, L; Odent, S; Naudion, S; Delrue, MA; Le Caignec, C; Vincent, M; Isidor, B; Renaldo, F; Stewart, F; Toutain, A; Koehler, U; Häckl, B; von Stülpnagel, C; Kluger, G; Møller, RS; Pal, D; Jonson, T; Soller, M; Verbeek, NE; van Haelst, MM; de Kovel, C; Koeleman, B; Monroe, G; van Haaften, G; Attié-Bitach, T; Boutaud, L; Héron, D; Mignot, C;
Hum Genet. 2017; 136(4): 463-479.
Originalarbeiten (Zeitschrift)
Treatable mitochondrial diseases: cofactor metabolism and beyond.
Distelmaier, F; Haack, TB; Wortmann, SB; Mayr, JA; Prokisch, H;
Brain. 2017; 140(Pt 2): e11
Letter
Molecular and clinical spectra of FBXL4 deficiency.
El-Hattab, AW; Dai, H; Almannai, M; Wang, J; Faqeih, EA; Al Asmari, A; Saleh, MAM; Elamin, MAO; Alfadhel, M; Alkuraya, FS; Hashem, M; Aldosary, MS; Almass, R; Almutairi, FB; Alsagob, M; Al-Owain, M; Al-Sharfa, S; Al-Hassnan, ZN; Al Rahbeeni, Z; Al-Muhaizea, MA; Makhseed, N; Foskett, GK; Stevenson, DA; Gomez-Ospina, N; Lee, C; Boles, RG; Schrier Vergano, SA; Wortmann, SB; Sperl, W; Opladen, T; Hoffmann, GF; Hempel, M; Prokisch, H; Alhaddad, B; Mayr, JA; Chan, W; Kaya, N; Wong, LC;
Hum Mutat. 2017; 38(12):1649-1659
Originalarbeiten (Zeitschrift)
Attention capacity in European adolescents: role of different health-related factors. The HELENA study
Esteban-Cornejo, I; Cadenas-Sanchez, C; Vanhelst, J; Michels, N; Lambrinou, CP; Gonzalez-Gross, M; Widhalm, K; Kersting, M; Puerta, AD; Kafatos, A; Moreno, LA; Ortega, FB
EUR J PEDIATR. 2017; 176(10): 1433-1437.
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Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.
Feichtinger, RG; Brunner-Krainz, M; Alhaddad, B; Wortmann, SB; Kovacs-Nagy, R; Stojakovic, T; Erwa, W; Resch, B; Windischhofer, W; Verheyen, S; Uhrig, S; Windpassinger, C; Locker, F; Makowski, C; Strom, TM; Meitinger, T; Prokisch, H; Sperl, W; Haack, TB; Mayr, JA;
Oxid Med Cell Longev. 2017; 2017: 7202589
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Oxidative Phosphorylation System in Gastric Carcinomas and Gastritis.
Feichtinger, RG; Neureiter, D; Skaria, T; Wessler, S; Cover, TL; Mayr, JA; Zimmermann, FA; Posselt, G; Sperl, W; Kofler, B
OXID MED CELL LONGEV. 2017; 2017: 1320241
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Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.
Feichtinger, RG; Oláhová, M; Kishita, Y; Garone, C; Kremer, LS; Yagi, M; Uchiumi, T; Jourdain, AA; Thompson, K; DSouza, AR; Kopajtich, R; Alston, CL; Koch, J; Sperl, W; Mastantuono, E; Strom, TM; Wortmann, SB; Meitinger, T; Pierre, G; Chinnery, PF; Chrzanowska-Lightowlers, ZM; Lightowlers, RN; DiMauro, S; Calvo, SE; Mootha, VK; Moggio, M; Sciacco, M; Comi, GP; Ronchi, D; Murayama, K; Ohtake, A; Rebelo-Guiomar, P; Kohda, M; Kang, D; Mayr, JA; Taylor, RW; Okazaki, Y; Minczuk, M; Prokisch, H;
Am J Hum Genet. 2017; 101(4):525-538
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Effects of alpha-melanocyte-stimulating hormone on mitochondrial energy metabolism in rats of different age-groups.
Feichtinger, RG; Pétervári, E; Zopf, M; Vidali, S; Aminzadeh-Gohari, S; Mayr, JA; Kofler, B; Balaskó, M;
Neuropeptides. 2017; 64: 123-130.
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Gender differences and the role of parental education, school types and migration on the body mass index of 2930 Austrian school children : A cross-sectional study.
Furthner, D; Ehrenmüller, M; Biebl, A; Lanzersdorfer, R; Halmerbauer, G; Auer-Hackenberg, L; Schmitt, K;
Wien Klin Wochenschr. 2017; 129(21-22):786-792
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Amino acids intake and physical fitness among adolescents.
Gracia-Marco, L; Bel-Serrat, S; Cuenca-Garcia, M; Gonzalez-Gross, M; Pedrero-Chamizo, R; Manios, Y; Marcos, A; Molnar, D; Widhalm, K; Polito, A; Vanhelst, J; Hagströmer, M; Sjöström, M; Kafatos, A; de Henauw, S; Gutierrez, Á; Castillo, MJ; Moreno, LA;
Amino Acids. 2017; 49(6): 1041-1052.
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Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.
Habarou, F; Hamel, Y; Haack, TB; Feichtinger, RG; Lebigot, E; Marquardt, I; Busiah, K; Laroche, C; Madrange, M; Grisel, C; Pontoizeau, C; Eisermann, M; Boutron, A; Chrétien, D; Chadefaux-Vekemans, B; Barouki, R; Bole-Feysot, C; Nitschke, P; Goudin, N; Boddaert, N; Nemazanyy, I; Delahodde, A; Kölker, S; Rodenburg, RJ; Korenke, GC; Meitinger, T; Strom, TM; Prokisch, H; Rotig, A; Ottolenghi, C; Mayr, JA; de Lonlay, P;
Am J Hum Genet. 2017; 101(2): 283-290.
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LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study.
Hempel, M; Kremer, LS; Tsiakas, K; Alhaddad, B; Haack, TB; Löbel, U; Feichtinger, RG; Sperl, W; Prokisch, H; Mayr, JA; Santer, R;
Mitochondrion. 2017; 37:55-61
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Prognostic relevance of MOG antibodies in children with an acquired demyelinating syndrome
Hennes, EM; Baumann, M; Schanda, K; Anlar, B; Bajer-Kornek, B; Blaschek, A; Brantner-Inthaler, S; Diepold, K; Eisenkolbl, A; Gotwald, T; Kuchukhidze, G; Gruber-Sedlmayr, U; Hausler, M; Hoftberger, R; Karenfort, M; Klein, A; Koch, J; Kraus, V; Lechner, C; Leiz, S; Leypoldt, F; Mader, S; Marquard, K; Poggenburg, I; Pohl, D; Pritsch, M; Raucherzauner, M; Schimmel, M; Thiels, C; Tibussek, D; Vieker, S; Zeches, C; Berger, T; Reindl, M; Rostasy, K
NEUROLOGY. 2017; 89(9): 900-908.
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Diet quality and attention capacity in European adolescents: the Healthy Lifestyle in Europe by Nutrition in Adolescence (HELENA) study.
Henriksson, P; Cuenca-Garcia, M; Labayen, I; Esteban-Cornejo, I; Henriksson, H; Kersting, M; Vanhelst, J; Widhalm, K; Gottrand, F; Moreno, LA; Ortega, FB
BRIT J NUTR. 2017; 117(11): 1587-1595.
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Prevalence of ideal cardiovascular health in European adolescents: The HELENA study.
Henriksson, P; Henriksson, H; Gracia-Marco, L; Labayen, I; Ortega, FB; Huybrechts, I; Espana-Romero, V; Manios, Y; Widhalm, K; Dallongeville, J; Gonzalez-Gross, M; Marcos, A; Moreno, LA; Castillo, MJ; Ruiz, JR
INT J CARDIOL. 2017; 240: 428-432.
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Phenotypes and genotypes in individuals with SMC1A variants
Huisman, S; Mulder, PA; Redeker, E; Bader, I; Bisgaard, AM; Brooks, A; Cereda, A; Cinca, C; Clark, D; Cormier-Daire, V; Deardorff, MA; Diderich, K; Elting, M; van Essen, A; FitzPatrick, D; Gervasini, C; Gillessen-Kaesbach, G; Girisha, KM; Hilhorst-Hofstee, Y; Hopman, S; Horn, D; Isrie, M; Jansen, S; Jespersgaard, C; Kaiser, FJ; Kaur, M; Kleefstra, T; Krantz, ID; Lakeman, P; Landlust, A; Lessel, D; Michot, C; Moss, J; Noon, SE; Oliver, C; Parenti, I; Pie, J; Ramos, FJ; Rieubland, C; Russo, S; Selicorni, A; Tumer, Z; Vorstenbosch, R; Wenger, TL; van Balkom, I; Piening, S; Wierzba, J; Hennekam, RC
AM J MED GENET A. 2017; 173(8): 2108-2125.
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A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure.
Hung, CY; Volkmar, B; Baker, JD; Bauer, JW; Gussoni, E; Hainzl, S; Klausegger, A; Lorenzo, J; Mihalek, I; Rittinger, O; Tekin, M; Dallman, JE; Bodamer, OA
PLOS ONE. 2017; 12(12): e0189324
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Using reduced rank regression methods to identify dietary patterns associated with obesity: a cross-country study among European and Australian adolescents.
Huybrechts, I; Lioret, S; Mouratidou, T; Gunter, MJ; Manios, Y; Kersting, M; Gottrand, F; Kafatos, A; De Henauw, S; Cuenca-García, M; Widhalm, K; Gonzales-Gross, M; Molnar, D; Moreno, LA; McNaughton, SA;
Br J Nutr. 2017; 117(2): 29-305.
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Heart rate variability can"t be used to evaluate acute distress in preterm infants.
Kaar, K; Brandner, J; Minnich, B; Hilberath, J; Weisser, C; Wald, M
ACTA PAEDIATR. 2017; 106(8): 1359
Editorials
Glycated hemoglobin A1c as a risk factor for severe hypoglycemia in pediatric type 1 diabetes.
Karges, B; Kapellen, T; Wagner, VM; Steigleder-Schweiger, C; Karges, W; Holl, RW; Rosenbauer, J
Pediatr Diabetes. 2017; 18(1):51-58
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Distribution of the neuro-regulatory peptide galanin in the human eye.
Kaser-Eichberger, A; Trost, A; Strohmaier, C; Bogner, B; Runge, C; Bruckner, D; Hohberger, B; Jünemann, A; Kofler, B; Reitsamer, HA; Schrödl, F;
Neuropeptides. 2017; 64:85-93
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CAD mutations and uridine-responsive epileptic encephalopathy.
Koch, J; Mayr, JA; Alhaddad, B; Rauscher, C; Bierau, J; Kovacs-Nagy, R; Coene, KL; Bader, I; Holzhacker, M; Prokisch, H; Venselaar, H; Wevers, RA; Distelmaier, F; Polster, T; Leiz, S; Betzler, C; Strom, TM; Sperl, W; Meitinger, T; Wortmann, SB; Haack, TB;
Brain. 2017; 140(Pt 2): 279-286.
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The neuropeptide galanin modulates natural killer cell function.
Koller, A; Bianchini, R; Schlager, S; Münz, C; Kofler, B; Wiesmayr, S;
Neuropeptides. 2017; 64: 109-115.
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Analysis of Mitochondrial RNA-Processing Defects in Patient-Derived Tissues by qRT-PCR and RNAseq.
Kopajtich, R; Mayr, JA; Prokisch, H;
Methods Mol Biol. 2017; 1567: 379-390.
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A high-glucose diet affects Achilles tendon healing in rats.
Korntner, S; Kunkel, N; Lehner, C; Gehwolf, R; Wagner, A; Augat, P; Stephan, D; Heu, V; Bauer, HC; Traweger, A; Tempfer, H;
Sci Rep. 2017; 7(1): 780
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Dosing considerations for rufinamide in patients with Lennox-Gastaut syndrome: Phase III trial results and real-world clinical data.
Kothare, S; Kluger, G; Sachdeo, R; Williams, B; Olhaye, O; Perdomo, C; Bibbiani, F
SEIZURE-EUR J EPILEP. 2017; 47: 25-33.
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Impaired K+ binding to glial glutamate transporter EAAT1 in migraine.
Kovermann, P; Hessel, M; Kortzak, D; Jen, JC; Koch, J; Fahlke, C; Freilinger, T;
Sci Rep. 2017; 7(1): 13913
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Genetic diagnosis of Mendelian disorders via RNA sequencing.
Kremer, LS; Bader, DM; Mertes, C; Kopajtich, R; Pichler, G; Iuso, A; Haack, TB; Graf, E; Schwarzmayr, T; Terrile, C; Koňaříková, E; Repp, B; Kastenmüller, G; Adamski, J; Lichtner, P; Leonhardt, C; Funalot, B; Donati, A; Tiranti, V; Lombes, A; Jardel, C; Gläser, D; Taylor, RW; Ghezzi, D; Mayr, JA; Rötig, A; Freisinger, P; Distelmaier, F; Strom, TM; Meitinger, T; Gagneur, J; Prokisch, H;
Nat Commun. 2017; 8: 15824
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Volume-Targeted Ventilation in the Neonate: Benchmarking Ventilators on an Active Lung Model.
Krieger, TJ; Wald, M;
Pediatr Crit Care Med. 2017; 18(3): 241-248.
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Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.
Kuechler, A; Czeschik, JC; Graf, E; Grasshoff, U; Hüffmeier, U; Busa, T; Beck-Woedl, S; Faivre, L; Rivière, JB; Bader, I; Koch, J; Reis, A; Hehr, U; Rittinger, O; Sperl, W; Haack, TB; Wieland, T; Engels, H; Prokisch, H; Strom, TM; Lüdecke, HJ; Wieczorek, D;
Eur J Hum Genet. 2017; 25(2): 183-191.
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The time window for successful right-hemispheric language reorganization in children
Lidzba, K; Kupper, H; Kluger, G; Staudt, B
EUR J PAEDIATR NEURO. 2017; 21(5): 715-721.
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Automated segmentation of human cervical-supraclavicular adipose tissue in magnetic resonance images.
Lundström, E; Strand, R; Forslund, A; Bergsten, P; Weghuber, D; Ahlström, H; Kullberg, J;
Sci Rep. 2017; 7(1): 3064
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Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Maas, RR; Iwanicka-Pronicka, K; Kalkan Ucar, S; Alhaddad, B; AlSayed, M; Al-Owain, MA; Al-Zaidan, HI; Balasubramaniam, S; Barić, I; Bubshait, DK; Burlina, A; Christodoulou, J; Chung, WK; Colombo, R; Darin, N; Freisinger, P; Garcia Silva, MT; Grunewald, S; Haack, TB; van Hasselt, PM; Hikmat, O; Hörster, F; Isohanni, P; Ramzan, K; Kovacs-Nagy, R; Krumina, Z; Martin-Hernandez, E; Mayr, JA; McClean, P; De Meirleir, L; Naess, K; Ngu, LH; Pajdowska, M; Rahman, S; Riordan, G; Riley, L; Roeben, B; Rutsch, F; Santer, R; Schiff, M; Seders, M; Sequeira, S; Sperl, W; Staufner, C; Synofzik, M; Taylor, RW; Trubicka, J; Tsiakas, K; Unal, O; Wassmer, E; Wedatilake, Y; Wolff, T; Prokisch, H; Morava, E; Pronicka, E; Wevers, RA; de Brouwer, AP; Wortmann, SB;
Ann Neurol. 2017; 82(6):1004-1015
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Adiponectin Predicts High-Density Lipoprotein Cholesterol Efflux Capacity in Adults Irrespective of Body Mass Index and Fat Distribution.
Marsche, G; Zelzer, S; Meinitzer, A; Kern, S; Meissl, S; Pregartner, G; Weghuber, D; Almer, G; Mangge, H
J CLIN ENDOCR METAB. 2017; 102(11): 4117-4123.
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Regular breakfast consumption is associated with higher blood vitamin status in adolescents: the HELENA (Healthy Lifestyle in Europe by Nutrition in Adolescence) Study.
Mielgo-Ayuso, J; Valtueña, J; Cuenca-García, M; Gottrand, F; Breidenassel, C; Ferrari, M; Manios, Y; De Henauw, S; Widhalm, K; Kafatos, A; Kersting, M; Huybrechts, I; Moreno, LA; González-Gross, M;
Public Health Nutr. 2017; 20(8): 1393-1404.
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Fruit and vegetables consumption is associated with higher vitamin intake and blood vitamin status among European adolescents.
Mielgo-Ayuso, J; Valtueña, J; Huybrechts, I; Breidenassel, C; Cuenca-García, M; De Henauw, S; Stehle, P; Kafatos, A; Kersting, M; Widhalm, K; Manios, Y; Azzini, E; Molnar, D; Moreno, LA; González-Gross, M;
Eur J Clin Nutr. 2017; 71(4):458-467
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Acute central effects of alarin on the regulation on energy homeostasis.
Mikó, A; Füredi, N; Tenk, J; Rostás, I; Soós, S; Solymár, M; Székely, M; Balaskó, M; Brunner, SM; Kofler, B; Pétervári, E;
Neuropeptides. 2017; 64: 117-122.
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Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.
Møller, RS; Wuttke, TV; Helbig, I; Marini, C; Johannesen, KM; Brilstra, EH; Vaher, U; Borggraefe, I; Talvik, I; Talvik, T; Kluger, G; Francois, LL; Lesca, G; de Bellescize, J; Blichfeldt, S; Chatron, N; Holert, N; Jacobs, J; Swinkels, M; Betzler, C; Syrbe, S; Nikanorova, M; Myers, CT; Larsen, LH; Vejzovic, S; Pendziwiat, M; von Spiczak, S; Hopkins, S; Dubbs, H; Mang, Y; Mukhin, K; Holthausen, H; van Gassen, KL; Dahl, HA; Tommerup, N; Mefford, HC; Rubboli, G; Guerrini, R; Lemke, JR; Lerche, H; Muhle, H; Maljevic, S;
Neurology. 2017; 88(5): 483-492.
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Seizures, enamel defects and psychomotor developmental delay: The first patient with Kohlschatter-Tonz syndrome caused by a ROGDI-gene deletion
Morscher, RJ; Rauscher, C; Sperl, W; Rittinger, O
SEIZURE-EUR J EPILEP. 2017; 50: 118-120.
Fallberichte
Transcriptional and Cytokine Profiles Identify CXCL9 as a Biomarker of Disease Activity in Morphea.
OBrien, JC; Rainwater, YB; Malviya, N; Cyrus, N; Auer-Hackenberg, L; Hynan, LS; Hosler, GA; Jacobe, HT;
J Invest Dermatol. 2017; 137(8):1663-1670
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Physical Activity and Physical Fitness in Pediatric Obesity: What are the First Steps for Clinicians? Expert Conclusion from the 2016 ECOG Workshop.
OMalley, G; Ring-Dimitriou, S; Nowicka, P; Vania, A; Frelut, ML; Farpour-Lambert, N; Weghuber, D; Thivel, D;
Int J Exerc Sci. 2017; 10(4): 487-496.
Editorials
Transient congenital dilated cardiomyopathy after maternal R-CHOP chemotherapy during pregnancy.
Padberg, S; Mick, I; Frenzel, C; Greil, R; Hilberath, J; Schaefer, C;
Reprod Toxicol. 2017; 71: 146-149.
Fallberichte
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.
Parenti, I; Teresa-Rodrigo, ME; Pozojevic, J; Ruiz Gil, S; Bader, I; Braunholz, D; Bramswig, NC; Gervasini, C; Larizza, L; Pfeiffer, L; Ozkinay, F; Ramos, F; Reiz, B; Rittinger, O; Strom, TM; Watrin, E; Wendt, K; Wieczorek, D; Wollnik, B; Baquero-Montoya, C; Pié, J; Deardorff, MA; Gillessen-Kaesbach, G; Kaiser, FJ;
Hum Genet. 2017; 136(3):307-320
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RABBIT risk score and ICU admission due to infection in patients with rheumatoid arthritis.
Pieringer, H; Hintenberger, R; Pohanka, E; Steinwender, C; Meier, J; Gruber, F; Auer-Hackenberg, L;
Clin Rheumatol. 2017; 36(11):2439-2445
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A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.
Pronicka, E; Ropacka-Lesiak, M; Trubicka, J; Pajdowska, M; Linke, M; Ostergaard, E; Saunders, C; Horsch, S; van Karnebeek, C; Yaplito-Lee, J; Distelmaier, F; Õunap, K; Rahman, S; Castelle, M; Kelleher, J; Baris, S; Iwanicka-Pronicka, K; Steward, CG; Ciara, E; Wortmann, SB;
J Inherit Metab Dis. 2017; 40(6): 853-860.
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New Aspects in Allergy Education: Special Emphasis on Anaphylaxis
Ring, J; Brockow, K; Kugler, C; Gebert, N; Grando, K; Gotz, D; Hutegger, I; Luthi, H; Munch, D; Spindler, T; Schmid-Grendelmeier, P; Gieler, U
ALLERGO J. 2017; 26(7): 34-40.
Übersichtsarbeiten
3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency
Rokicki, D; Pajdowska, M; Trubicka, J; Thong, MK; Ciara, E; Piekutowska-Abramczuk, D; Pronicki, M; Sikora, R; Haidar, R; Oltarzewski, M; Jablonska, E; Muthukumarasamy, P; Sthaneswar, P; Gan, CS; Krajewska-Walasek, M; Carrozzo, R; Verrigni, D; Semeraro, M; Rizzo, C; Taurisano, R; Alhaddad, B; Kovacs-Nagy, R; Haack, TB; Dionisi-Vici, C; Pronicka, E; Wortmann, SB
CLIN CHIM ACTA. 2017; 471: 95-100.
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MEGDEL Syndrome: Expanding the Phenotype and New Mutations
Sequeira, S; Rodrigues, M; Jacinto, S; Wevers, RA; Wortmann, SB
NEUROPEDIATRICS. 2017; 48(5): 382-384.
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Rehabilitation of Children and Adolescents in Austria A look to the past and the future
Sperl, W
PADIATR PADOL. 2017; 52(6): 256-263.
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Pancreatic Fat Is Associated With Metabolic Syndrome and Visceral Fat but Not Beta-Cell Function or Body Mass Index in Pediatric Obesity.
Staaf, J; Labmayr, V; Paulmichl, K; Manell, H; Cen, J; Ciba, I; Dahlbom, M; Roomp, K; Anderwald, CH; Meissnitzer, M; Schneider, R; Forslund, A; Widhalm, K; Bergquist, J; Ahlström, H; Bergsten, P; Weghuber, D; Kullberg, J;
Pancreas. 2017; 46(3): 358-365.
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Metabolomic profiling identifies potential pathways involved in the interaction of iron homeostasis with glucose metabolism.
Stechemesser, L; Eder, SK; Wagner, A; Patsch, W; Feldman, A; Strasser, M; Auer, S; Niederseer, D; Huber-Schönauer, U; Paulweber, B; Zandanell, S; Ruhaltinger, S; Weghuber, D; Haschke-Becher, E; Grabmer, C; Rohde, E; Datz, C; Felder, TK; Aigner, E;
Mol Metab. 2017; 6(1):38-47
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Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome?
Ucar, SK; Mayr, JA; Feichtinger, RG; Canda, E; Çoker, M; Wortmann, SB;
JIMD Rep. 2017; 35:39-45
Fallberichte
Febrile Infection-Related Epilepsy Syndrome: Clinical Review and Hypotheses of Epileptogenesis.
van Baalen, A; Vezzani, A; Häusler, M; Kluger, G;
Neuropediatrics. 2017; 48(1):5-18
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Fertility in adult women with classic galactosemia and primary ovarian insufficiency.
van Erven, B; Berry, GT; Cassiman, D; Connolly, G; Forga, M; Gautschi, M; Gubbels, CS; Hollak, CEM; Janssen, MC; Knerr, I; Labrune, P; Langendonk, JG; Ounap, K; Thijs, A; Vos, R; Wortmann, SB; Rubio-Gozalbo, ME
FERTIL STERIL. 2017; 108(1): 168-174.
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Comparison of definitions for the metabolic syndrome in adolescents. The HELENA study.
Vanlancker, T; Schaubroeck, E; Vyncke, K; Cadenas-Sanchez, C; Breidenassel, C; González-Gross, M; Gottrand, F; Moreno, LA; Beghin, L; Molnár, D; Manios, Y; Gunter, MJ; Widhalm, K; Leclercq, C; Dallongeville, J; Ascensión, M; Kafatos, A; Castillo, MJ; De Henauw, S; Ortega, FB; Huybrechts, I;
Eur J Pediatr. 2017; 176(2): 241-252.
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The ketogenic diet is not feasible as a therapy in a CD-1 nu/nu mouse model of renal cell carcinoma with features of Stauffer's syndrome
Vidali, S; Aminzadeh-Gohari, S; Feichtinger, RG; Vatrinet, R; Koller, A; Locker, F; Rutherford, T; O'Donnell, M; Stoger-Kleiber, A; Lambert, B; Felder, TK; Sperl, W; Kofler, B
ONCOTARGET. 2017; 8(34): 57201-57215.
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Epilepsy in patients with GRIN2A alterations: Genetics, neurodevelopment, epileptic phenotype and response to anticonvulsive drugs.
von Stülpnagel, C; Ensslen, M; Møller, RS; Pal, DK; Masnada, S; Veggiotti, P; Piazza, E; Dreesmann, M; Hartlieb, T; Herberhold, T; Hughes, E; Koch, M; Kutzer, C; Hoertnagel, K; Nitanda, J; Pohl, M; Rostásy, K; Haack, TB; Stöhr, K; Kluger, G; Borggraefe, I;
Eur J Paediatr Neurol. 2017; 21(3): 530-541.
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Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1.
Wielaender, F; Sarviaho, R; James, F; Hytonen, MK; Cortez, MA; Kluger, G; Koskinen, LLE; Arumilli, M; Kornberg, M; Bathen-Noethen, A; Tipold, A; Rentmeister, K; Bhatti, SFM; Hulsmeyer, V; Boettcher, IC; Tastensen, C; Flegel, T; Dietschi, E; Leeb, T; Matiasek, K; Fischer, A; Lohi, H
P NATL ACAD SCI USA. 2017; 114(10): 2669-2674.
Originalarbeiten (Zeitschrift)
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
Wolff, M; Johannesen, KM; Hedrich, UBS; Masnada, S; Rubboli, G; Gardella, E; Lesca, G; Ville, D; Milh, M; Villard, L; Afenjar, A; Chantot-Bastaraud, S; Mignot, C; Lardennois, C; Nava, C; Schwarz, N; Gerard, M; Perrin, L; Doummar, D; Auvin, S; Miranda, MJ; Hempel, M; Brilstra, E; Knoers, N; Verbeek, N; van Kempen, M; Braun, KP; Mancini, G; Biskup, S; Hortnagel, K; Docker, M; Bast, T; Loddenkemper, T; Wong-Kisiel, L; Baumeister, FM; Fazeli, W; Striano, P; Dilena, R; Fontana, E; Zara, F; Kurlemann, G; Klepper, J; Thoene, JG; Arndt, DH; Deconinck, N; Schmitt-Mechelke, T; Maier, O; Muhle, H; Wical, B; Finetti, C; Bruckner, R; Pietz, J; Golla, G; Jillella, D; Linnet, KM; Charles, P; Moog, U; Oiglane-Shlik, E; Mantovani, JF; Park, K; Deprez, M; Lederer, D; Mary, S; Scalais, E; Selim, L; Van Coster, R; Lagae, L; Nikanorova, M; Hjalgrim, H; Korenke, GC; Trivisano, M; Specchio, N; Ceulemans, B; Dorn, T; Helbig, KL; Hardies, K; Stamberger, H; de Jonghe, P; Weckhuysen, S; Lemke, JR; Krageloh-Mann, I; Helbig, I; Kluger, G; Lerche, H; Moller, RS
BRAIN. 2017; 140: 1316-1336.
Originalarbeiten (Zeitschrift)
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.
Wortmann, SB; Chen, MA; Colombo, R; Pontoglio, A; Alhaddad, B; Botto, LD; Yuzyuk, T; Coughlin, CR; Descartes, M; Grunewald, S; Maranda, B; Mills, PB; Pitt, J; Potente, C; Rodenburg, R; Kluijtmans, LAJ; Sampath, S; Pai, EF; Wevers, RA; Tiller, GE
J INHERIT METAB DIS. 2017; 40(3): 423-431.
Originalarbeiten (Zeitschrift)
A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era.
Wortmann, SB; Mayr, JA; Nuoffer, JM; Prokisch, H; Sperl, W;
Neuropediatrics. 2017; 48(4): 309-314.
Originalarbeiten (Zeitschrift)
Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.
Wortmann, SB; Timal, S; Venselaar, H; Wintjes, LT; Kopajtich, R; Feichtinger, RG; Onnekink, C; Mühlmeister, M; Brandt, U; Smeitink, JA; Veltman, JA; Sperl, W; Lefeber, D; Pruijn, G; Stojanovic, V; Freisinger, P; V Spronsen, F; Derks, TG; Veenstra-Knol, HE; Mayr, JA; Rötig, A; Tarnopolsky, M; Prokisch, H; Rodenburg, RJ;
Hum Mutat. 2017; 38(12): 1786-1795.
Originalarbeiten (Zeitschrift)

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

Topically applied diacerein: Basic pharmacokinetics in generalized-severe epidermolysis bullosa simplex
Ablinger, M; Felder, T; Wimmer, M; Zauner, R; Hofbauer, P; Wolkersdorfer, M; Lagler, F; Diem, A; Bauer, JW; Wally, V
J INVEST DERMATOL. 2017; 137(10): S198-S198.
Abstracts (Zeitschrift)
EXENATIDE ONCE WEEKLY REDUCES WEIGHT, LIVER FAT AND 2-HOUR POSTPRANDIAL GLUCOSE IN OBESE ADOLESCENTS
Forslund, A; Weghuber, D; Paulmichl, K; Zsoldos, F; Widhalm, K; Vheu, MD; Lagler, F; Cadamuro, J; Brunner, S; Hofmann, J; Dahlbom, M; Lidstrom, M; Vilen, H; Ciba, I; Manell, H; Kullberg, J; Ahlstrom, H; Kristinsson, H; Alderborn, A; Bergsten, P
ACTA PAEDIATR. 2017; 106: 14-15.
Abstracts (Zeitschrift)
Interprofessional simulation training for emergencies in mucopolysaccharidoses
Lagler, FB; Scarpa, M; Botz, A; Baumann, M; Schaefer, M; Lampe, C
MOL GENET METAB. 2017; 120(1-2): S79-S80.
Abstracts (Zeitschrift)
Variable but distinct metabolic signature in malignant melanoma
Lang, R; Feichtinger, RG; Geilberger, R; Rathje, F; Mayr, J; Sperl, W; Bauer, JW; Hauser-Kronberger, C; Emberger, M; Kofler, B
J INVEST DERMATOL. 2017; 137(10): S283-S283.
Abstracts (Zeitschrift)
The role of the galanin system in psoriasis-like skin inflammation
Locker, F; Vidali, S; Holub, B; Stockinger, J; Koller, A; Brunner, S; Schwarzenbacher, D; Lang, R; Kofler, B
J INVEST DERMATOL. 2017; 137(10): S253-S253.
Abstracts (Zeitschrift)
PREVALENCE OF OVERWEIGHT AND OBESITY IN AUSTRIAN 8-9-YEAR OLD CHILDREN. RESULTS FROM THE AUSTRIAN CHILDHOOD OBESITY SURVEILLANCE INITIATIVE
Maruszczak, K; Schindler, K; Sulz, I; Weghuber, D
ACTA PAEDIATR. 2017; 106: 32-32.
Abstracts (Zeitschrift)
ASSOCIATION BETWEEN NON-ALCOHOLIC FATTY LIVER DISEASE (NAFLD) AND IRON METABOLISM IN OBESE CHILDREN AND ADOLESCENTS: RESULTS OF THE BETA-JUDO STUDY
Paulmichl, K; Ahlstrom, H; Bergsten, P; Brunner, S; Cadamuro, J; Dahlbom, M; Forslund, A; Kullberg, J; Manell, H; Nasemann, J; Roomp, K; Widhalm, K; Zsoldos, F; Weghuber, D
ACTA PAEDIATR. 2017; 106: 13-13.
Abstracts (Zeitschrift)

Originalbeiträge in Sammelwerk (Buchbeitrag)

Übersicht zu den Therapiemöglichkeiten
Deschauer, M; Freisinger, P; Sperl, W;
In: DGM · Deutsche Gesellschaft für Muskelkranke e.V. editors(s). DGM-Handbuch Mitochondriale Erkrankungen Ein Patientenratgeber. p. 15-17.
Mitochondriale Erkrankungen mit Auftreten im Kindesalter
Freisinger, P; Sperl, W;
In: DGM · Deutsche Gesellschaft für Muskelkranke e.V. editors(s). DGM-Handbuch Mitochondriale Erkrankungen Ein Patientenratgeber. p. 9-12.
Zur Rolle der Kinder-und Jugendheilkunde.
Sperl, W
In: Czech, H; Weindling, P (Hrsg.) editors(s). Österreichische Ärzte und Ärztinnen im Nationalsozialismus. p. 245-246. (ISBN: 978-3-901142-69-7)
Diagnostik
Wortmann, SB; Prokisch, H;
In: Deutsche Gesellschaft für Muskelkranke (DGM) e.V. editors(s). DGM Handbuch Mitochondriale Erkrankungen Ein Patientenratgeber. 2: p. 12-15.

2016

Beiträge in Fachzeitschriften

Growth of infants consuming whey -predominant term infant formulas with a protein content of 1.8 g/100 kcal: a multicenter pooled analysis of individual participant data
Alexander, DD; Yan, J; Bylsma, LC; Northington, RS; Grathwohl, D; Steenhout, P; Erdmann, P; Spivey-Krobath, E; Haschke, F
AM J CLIN NUTR. 2016; 104(4): 1083-1092.
Originalarbeiten (Zeitschrift)
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.
Alston, CL; Compton, AG; Formosa, LE; Strecker, V; Oláhová, M; Haack, TB; Smet, J; Stouffs, K; Diakumis, P; Ciara, E; Cassiman, D; Romain, N; Yarham, JW; He, L; De Paepe, B; Vanlander, AV; Seneca, S; Feichtinger, RG; Płoski, R; Rokicki, D; Pronicka, E; Haller, RG; Van Hove, JL; Bahlo, M; Mayr, JA; Van Coster, R; Prokisch, H; Wittig, I; Ryan, MT; Thorburn, DR; Taylor, RW;
Am J Hum Genet. 2016; 99(1):217-227
Originalarbeiten (Zeitschrift)
17β-Hydroxysteroid dehydrogenase type 10 predicts survival of patients with colorectal cancer and affects mitochondrial DNA content.
Amberger, A; Deutschmann, AJ; Traunfellner, P; Moser, P; Feichtinger, RG; Kofler, B; Zschocke, J;
Cancer Lett. 2016; 374(1): 149-155.
Originalarbeiten (Zeitschrift)
[Gender differences of psychological, nutritional, and physical fitness variables influencing obesity/overweight in Austrian children and adolescents].
Ardelt-Gattinger, E; Ring-Dimitriou, S; Hofmann, J; Paulmichl, K; Zsoldos, F; Weghuber, D;
Wien Med Wochenschr. 2016; 166(3-4):111-116
Originalarbeiten (Zeitschrift)
MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.
Bader, I; Decker, E; Mayr, JA; Lunzer, V; Koch, J; Boltshauser, E; Sperl, W; Pietsch, P; Ertl-Wagner, B; Bolz, H; Bergmann, C; Rittinger, O;
Eur J Med Genet. 2016; 59(8): 386-391.
Originalarbeiten (Zeitschrift)
Diagnosis and Management of Drooling in Children With Progressive Dystonia: A Case Series of Patients With MEGDEL Syndrome
Blommaert, D; van Hulst, K; van den Hoogen, FJA; Erasmus, CE; Wortmann, SB
J CHILD NEUROL. 2016; 31(10): 1220-1226.
Originalarbeiten (Zeitschrift)
A longitudinal, randomized, and prospective study of nocturnal monitoring in children and adolescents with epilepsy: Effects on quality of life and sleep
Borusiak, P; Bast, T; Kluger, G; Weidenfeld, A; Langer, T; Jenke, ACW; Wiegand, G
EPILEPSY BEHAV. 2016; 61: 192-198.
Originalarbeiten (Zeitschrift)
Autoantibodies to neuronal antigens in children with focal epilepsy and no prima facie signs of encephalitis.
Borusiak, P; Bettendorf, U; Wiegand, G; Bast, T; Kluger, G; Philippi, H; Munstermann, D; Bien, CG
EUR J PAEDIATR NEURO. 2016; 20(4): 573-579.
Originalarbeiten (Zeitschrift)
Galanin 3 receptor-deficient mice show no alteration in the oxazolone-induced contact dermatitis phenotype.
Botz, B; Brunner, SM; Kemény, Á; Pintér, E; McDougall, JJ; Kofler, B; Helyes, Z;
Exp Dermatol. 2016; 25(9):725-727
Letter
Lack of Galanin 3 Receptor Aggravates Murine Autoimmune Arthritis.
Botz, B; Kemény, Á; Brunner, SM; Locker, F; Csepregi, J; Mócsai, A; Pintér, E; McDougall, JJ; Kofler, B; Helyes, Z;
J Mol Neurosci. 2016; 59(2):260-269
Originalarbeiten (Zeitschrift)
Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.
Ciara, E; Rokicki, D; Halat, P; Karkucińska-Więckowska, A; Piekutowska-Abramczuk, D; Mayr, J; Trubicka, J; Szymańska-Dębińska, T; Pronicki, M; Pajdowska, M; Dudzińska, M; Giżewska, M; Krajewska-Walasek, M; Książyk, J; Sperl, W; Płoski, R; Pronicka, E;
Mol Genet Metab Rep. 2016; 7: 70-76.
Originalarbeiten (Zeitschrift)
Effects of clustering of multiple lifestyle-related behaviors on blood pressure in adolescents from two observational studies.
de Moraes, AC; Fernández-Alvira, JM; Rendo-Urteaga, T; Julián-Almárcegui, C; Beghin, L; Kafatos, A; Molnar, D; De Henauw, S; Manios, Y; Widhalm, K; Pedrero-Chamizo, R; Galfo, M; Gottrand, F; Carvalho, HB; Moreno, LA;
Prev Med. 2016; 82: 111-117.
Originalarbeiten (Zeitschrift)
Reversal of Cytosolic One-Carbon Flux Compensates for Loss of the Mitochondrial Folate Pathway.
Ducker, GS; Chen, L; Morscher, RJ; Ghergurovich, JM; Esposito, M; Teng, X; Kang, Y; Rabinowitz, JD;
Cell Metab. 2016; 23(6): 1140-1153.
Originalarbeiten (Zeitschrift)
Peculiarities and pitfalls of quantifying mitochondrial energy metabolism in the skin.
Feichtinger, RG; Kofler, B;
Exp Dermatol. 2016; 25(2):101-102
Originalarbeiten (Zeitschrift)
Alterations of oxidative phosphorylation in meningiomas and peripheral nerve sheath tumors.
Feichtinger, RG; Weis, S; Mayr, JA; Zimmermann, FA; Bogner, B; Sperl, W; Kofler, B;
Neuro Oncol. 2016; 18(2): 184-194.
Originalarbeiten (Zeitschrift)
Immunization of children with increased allergy risk. Short version of the position paper on "allergy and vaccination" of the Society of Pediatric Allergology and Environmental Medicine
Gruber, C; Ankermann, T; Bauer, CP; Bruns, R; Eigenmann, P; Fischer, P; Friedrichs, F; Gerstlauer, M; Huttegger, I; Lange, L; Lob-Corzilius, T; Vogelberg, C; Schmidt, S
MONATSSCHR KINDERH. 2016; 164(1): 52-57.
Originalarbeiten (Zeitschrift)
Postnatal High Protein Intake Can Contribute to Accelerated Weight Gain of Infants and Increased Obesity Risk.
Haschke, F; Grathwohl, D; Detzel, P; Steenhout, P; Wagemans, N; Erdmann, P;
Nestle Nutr Inst Workshop Ser. 2016; 85:101-109
Übersichtsarbeiten
Metabolic Programming: Effects of Early Nutrition on Growth, Metabolism and Body Composition.
Haschke, F; Grathwohl, D; Haiden, N;
Nestle Nutr Inst Workshop Ser. 2016; 86:87-95
Originalarbeiten (Zeitschrift)
Nutritive and Bioactive Proteins in Breastmilk.
Haschke, F; Haiden, N; Thakkar, SK;
Ann Nutr Metab. 2016; 69 Suppl 2: 17-26.
Originalarbeiten (Zeitschrift)
Seasonal Variation in Blood Pressure in 162,135 Patients With Type 1 or Type 2 Diabetes Mellitus.
Hermann, JM; Rosenbauer, J; Dost, A; Steigleder-Schweiger, C; Kiess, W; Schofl, C; Holl, RW
J CLIN HYPERTENS. 2016; 18(4): 270-278.
Originalarbeiten (Zeitschrift)
Crave, Like, Eat: Determinants of Food Intake in a Sample of Children and Adolescents with a Wide Range in Body Mass
Hofmann, J; Meule, A; Reichenberger, J; Weghuber, D; Ardelt-Gattinger, E; Blechert, J
FRONT PSYCHOL. 2016; 7: 1389
Originalarbeiten (Zeitschrift)
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency
Huemer, M; Mulder-Bleile, R; Burda, P; Froese, DS; Suormala, T; Ben Zeev, B; Chinnery, PF; Dionisi-Vici, C; Dobbelaere, D; Gokcay, G; Demirkol, M; Haberle, J; Lossos, A; Mengel, E; Morris, AA; Niezen-Koning, KE; Plecko, B; Parini, R; Rokicki, D; Schiff, M; Schimmel, M; Sewell, AC; Sperl, W; Spiekerkoetter, U; Steinmann, B; Taddeucci, G; Trejo-Gabriel-Galan, JM; Trefz, F; Tsuji, M; Vilaseca, MA; von Kleist-Retzow, JC; Walker, V; Zeman, J; Baumgartner, MR; Fowler, B
J INHERIT METAB DIS. 2016; 39(1): 115-124.
Originalarbeiten (Zeitschrift)
Infectious Mononucleosis Triggers Generation of IgG Auto-Antibodies against Native Myelin Oligodendrocyte Glycoprotein
Kakalacheva, K; Regenass, S; Wiesmayr, S; Azzi, T; Berger, C; Dale, RC; Brilot, F; Munz, C; Rostasy, K; Nadal, D; Lunemann, JD
VIRUSES-BASEL. 2016; 8(2):
Originalarbeiten (Zeitschrift)
Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.
Kennedy, H; Haack, TB; Hartill, V; Mataković, L; Baumgartner, ER; Potter, H; Mackay, R; Alston, CL; O"Sullivan, S; McFarland, R; Connolly, G; Gannon, C; King, R; Mead, S; Crozier, I; Chan, W; Florkowski, CM; Sage, M; Höfken, T; Alhaddad, B; Kremer, LS; Kopajtich, R; Feichtinger, RG; Sperl, W; Rodenburg, RJ; Minet, JC; Dobbie, A; Strom, TM; Meitinger, T; George, PM; Johnson, CA; Taylor, RW; Prokisch, H; Doudney, K; Mayr, JA;
Am J Hum Genet. 2016; 99(3): 674-682.
Originalarbeiten (Zeitschrift)
Overview of Habilitation and Rehabilitation for Children and Adolescents in Europe
Kerbl, R; Sperl, W; Strassburg, HM; Pettoello-Mantovani, M; Ehrich, J
J PEDIATR-US. 2016; 172: 233-235.
Originalarbeiten (Zeitschrift)
Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy.
Koch, J; Feichtinger, RG; Freisinger, P; Pies, M; Schrödl, F; Iuso, A; Sperl, W; Mayr, JA; Prokisch, H; Haack, TB;
J Med Genet. 2016; 53(4):270-278
Originalarbeiten (Zeitschrift)
In vitro toxicity of the galanin receptor 3 antagonist SNAP 37889.
Koller, A; Rid, R; Beyreis, M; Bianchini, R; Holub, BS; Lang, A; Locker, F; Brodowicz, B; Velickovic, O; Jakab, M; Kerschbaum, H; Önder, K; Kofler, B;
Neuropeptides. 2016; 56:83-88
Originalarbeiten (Zeitschrift)
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.
Kopajtich, R; Murayama, K; Janecke, AR; Haack, TB; Breuer, M; Knisely, AS; Harting, I; Ohashi, T; Okazaki, Y; Watanabe, D; Tokuzawa, Y; Kotzaeridou, U; Kölker, S; Sauer, S; Carl, M; Straub, S; Entenmann, A; Gizewski, E; Feichtinger, RG; Mayr, JA; Lackner, K; Strom, TM; Meitinger, T; Müller, T; Ohtake, A; Hoffmann, GF; Prokisch, H; Staufner, C;
Am J Hum Genet. 2016; 99(2): 414-422.
Originalarbeiten (Zeitschrift)
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood.
Kremer, LS; Danhauser, K; Herebian, D; Petkovic Ramadža, D; Piekutowska-Abramczuk, D; Seibt, A; Müller-Felber, W; Haack, TB; Płoski, R; Lohmeier, K; Schneider, D; Klee, D; Rokicki, D; Mayatepek, E; Strom, TM; Meitinger, T; Klopstock, T; Pronicka, E; Mayr, JA; Baric, I; Distelmaier, F; Prokisch, H;
Am J Hum Genet. 2016; 99(4): 894-902.
Originalarbeiten (Zeitschrift)
Antibodies to MOG and AQP4 in children with neuromyelitis optica and limited forms of the disease
Lechner, C; Baumann, M; Hennes, EM; Schanda, K; Marquard, K; Karenfort, M; Leiz, S; Pohl, D; Venkateswaran, S; Pritsch, M; Koch, J; Schimmel, M; Hausler, M; Klein, A; Blaschek, A; Thiels, C; Lucke, T; Gruber-Sedlmayr, U; Kornek, B; Hahn, A; Leypoldt, F; Sandrieser, T; Gallwitz, H; Stoffels, J; Korenke, C; Reindl, M; Rostasy, K
J NEUROL NEUROSUR PS. 2016; 87(8): 897-905.
Originalarbeiten (Zeitschrift)
GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.
Li, D; Yuan, HJ; Ortiz-Gonzalez, XR; Marsh, ED; Tian, LF; McCormick, EM; Kosobucki, GJ; Chen, WJ; Schulien, AJ; Chiavacci, R; Tankovic, A; Naase, C; Brueckner, F; von Stulpnagel-Steinbeis, C; Hu, C; Kusumoto, H; Hedrich, UBS; Elsen, G; Hortnagel, K; Aizenman, E; Lemke, JR; Hakonarson, H; Traynelis, SF; Falk, MJ
AM J HUM GENET. 2016; 99(4): 802-816.
Originalarbeiten (Zeitschrift)
Effectiveness of antiepileptic therapy in patients with PCDH19 mutations.
Lotte, J; Bast, T; Borusiak, P; Coppola, A; Cross, JH; Dimova, P; Fogarasi, A; Graness, I; Guerrini, R; Hjalgrim, H; Keimer, R; Korff, CM; Kurlemann, G; Leiz, S; Linder-Lucht, M; Loddenkemper, T; Makowski, C; Muhe, C; Nicolai, J; Nikanorova, M; Pellacani, S; Philip, S; Ruf, S; Fernandez, IS; Schlachter, K; Striano, P; Sukhudyan, B; Valcheva, D; Vermeulen, RJ; Weisbrod, T; Wilken, B; Wolf, P; Kluger, G
Seizure. 2016; 35:106-110
Originalarbeiten (Zeitschrift)
Branched-chain amino acids are associated with cardiometabolic risk profiles found already in lean, overweight and obese young.
Mangge, H; Zelzer, S; Prüller, F; Schnedl, WJ; Weghuber, D; Enko, D; Bergsten, P; Haybaeck, J; Meinitzer, A;
J Nutr Biochem. 2016; 32: 123-127.
Originalarbeiten (Zeitschrift)
Impulsivity, perceived self-regulatory success in dieting, and body mass in children and adolescents: A moderated mediation model
Meule, A; Hofmann, J; Weghuber, D; Blechert, J
APPETITE. 2016; 107: 15-20.
Originalarbeiten (Zeitschrift)
Infusoabdomen with abdominal compartment in extremely low birth weight neonates
Michel, AJ; Brandner, J; Cotofana, S; Ardelean, M; Metzger, R
J PEDIAT SURG CASE R. 2016; 6: 9-12.
Fallberichte
Ready-to-eat cereals improve nutrient, milk and fruit intake at breakfast in European adolescents.
Michels, N; De Henauw, S; Beghin, L; Cuenca-García, M; Gonzalez-Gross, M; Hallstrom, L; Kafatos, A; Kersting, M; Manios, Y; Marcos, A; Molnar, D; Roccaldo, R; Santaliestra-Pasías, AM; Sjostrom, M; Reye, B; Thielecke, F; Widhalm, K; Claessens, M;
Eur J Nutr. 2016; 55(2):771-779
Originalarbeiten (Zeitschrift)
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy
Mignot, C; von Stulpnagel, C; Nava, C; Ville, D; Sanlaville, D; Lesca, G; Rastetter, A; Gachet, B; Marie, Y; Korenke, GC; Borggraefe, I; Hoffmann-Zacharska, D; Szczepanik, E; Rudzka-Dybala, M; Yis, U; Caglayan, H; Isapof, A; Marey, I; Panagiotakaki, E; Korff, C; Rossier, E; Riess, A; Beck-Woedl, S; Rauch, A; Zweier, C; Hoyer, J; Reis, A; Mironov, M; Bobylova, M; Mukhin, K; Hernandez-Hernandez, L; Maher, B; Sisodiya, S; Kuhn, M; Glaeser, D; Wechuysen, S; Myers, CT; Mefford, HC; Hortnagel, K; Biskup, S; Lemke, JR; Heron, D; Kluger, G; Depienne, C
J MED GENET. 2016; 53(8): 511-522.
Originalarbeiten (Zeitschrift)
Combination of metronomic cyclophosphamide and dietary intervention inhibits neuroblastoma growth in a CD1-nu mouse model.
Morscher, RJ; Aminzadeh-Gohari, S; Hauser-Kronberger, C; Feichtinger, RG; Sperl, W; Kofler, B;
Oncotarget. 2016; 7(13):17060-17073
Originalarbeiten (Zeitschrift)
Retrospective evaluation of low long-term efficacy of antiepileptic drugs and ketogenic diet in 39 patients with CDKL5-related epilepsy.
Müller, A; Helbig, I; Jansen, C; Bast, T; Guerrini, R; Jähn, J; Muhle, H; Auvin, S; Korenke, GC; Philip, S; Keimer, R; Striano, P; Wolf, NI; Püst, B; Thiels, C; Fogarasi, A; Waltz, S; Kurlemann, G; Kovacevic-Preradovic, T; Ceulemans, B; Schmitt, B; Philippi, H; Tarquinio, D; Buerki, S; von Stülpnagel, C; Kluger, G;
Eur J Paediatr Neurol. 2016; 20(1):147-151
Originalarbeiten (Zeitschrift)
Psychosocial outcomes and counselee satisfaction following genetic counseling for hereditary breast and ovarian cancer: A patient-reported outcome study.
Oberguggenberger, A; Sztankay, M; Morscher, RJ; Sperner-Unterweger, B; Weber, I; Hubalek, M; Kemmler, G; Zschocke, J; Martini, C; Egle, D; Dünser, M; Gamper, E; Meraner, V;
J Psychosom Res. 2016; 89: 39-45.
Originalarbeiten (Zeitschrift)
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Olsen, RK; Koňaříková, E; Giancaspero, TA; Mosegaard, S; Boczonadi, V; Mataković, L; Veauville-Merllié, A; Terrile, C; Schwarzmayr, T; Haack, TB; Auranen, M; Leone, P; Galluccio, M; Imbard, A; Gutierrez-Rios, P; Palmfeldt, J; Graf, E; Vianey-Saban, C; Oppenheim, M; Schiff, M; Pichard, S; Rigal, O; Pyle, A; Chinnery, PF; Konstantopoulou, V; Möslinger, D; Feichtinger, RG; Talim, B; Topaloglu, H; Coskun, T; Gucer, S; Botta, A; Pegoraro, E; Malena, A; Vergani, L; Mazzà, D; Zollino, M; Ghezzi, D; Acquaviva, C; Tyni, T; Boneh, A; Meitinger, T; Strom, TM; Gregersen, N; Mayr, JA; Horvath, R; Barile, M; Prokisch, H;
Am J Hum Genet. 2016; 98(6): 1130-1145.
Originalarbeiten (Zeitschrift)
Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.
Ortigoza-Escobar, JD; Molero-Luis, M; Arias, A; Oyarzabal, A; Darín, N; Serrano, M; Garcia-Cazorla, A; Tondo, M; Hernández, M; Garcia-Villoria, J; Casado, M; Gort, L; Mayr, JA; Rodríguez-Pombo, P; Ribes, A; Artuch, R; Pérez-Dueñas, B;
Brain. 2016; 139(Pt 1): 31-38.
Originalarbeiten (Zeitschrift)
Analysis of Pediatric Pancreatitis (APPLE Trial): Pre-Study Protocol of a Multinational Prospective Clinical Trial.
Parniczky, A; Mosztbacher, D; Zsoldos, F; Toth, A; Lasztity, N; Hegyi, P
Digestion. 2016; 93(2):105-110
Originalarbeiten (Zeitschrift)
Modification and Validation of the Triglyceride-to-HDL Cholesterol Ratio as a Surrogate of Insulin Sensitivity in White Juveniles and Adults without Diabetes Mellitus: The Single Point Insulin Sensitivity Estimator (SPISE).
Paulmichl, K; Hatunic, M; H Jlund, K; Jotic, A; Krebs, M; Mitrakou, A; Porcellati, F; Tura, A; Bergsten, P; Forslund, A; Manell, H; Widhalm, K; Weghuber, D; Anderwald, CH;
Clin Chem. 2016; 62(9): 1211-1219.
Originalarbeiten (Zeitschrift)
Urinary Albumin Excretion and Vascular Function in Rheumatoid Arthritis.
Pieringer, H; Brummaier, T; Piringer, B; Auer-Hackenberg, L; Hartl, A; Puchner, R; Pohanka, E; Schmid, M;
J Korean Med Sci. 2016; 31(3):382-388
Originalarbeiten (Zeitschrift)
High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing.
Pölsler, L; Fiegl, H; Wimmer, K; Oberaigner, W; Amberger, A; Traunfellner, P; Morscher, RJ; Weber, I; Fauth, C; Wernstedt, A; Sperner-Unterweger, B; Oberguggenberger, A; Hubalek, M; Marth, C; Zschocke, J;
Eur J Hum Genet. 2016; 24(2): 258-262.
Originalarbeiten (Zeitschrift)
Youth Medicine Pediatrics Headache in Adolescents Conversation with Dr. Christian Rauscher, University Clinic for Child and Youth Therapy, Paracelsus Private Medical University of Salzburg
Rauscher, C
PADIATR PADOL. 2016; 51(5): 196-197.
Editorials
MELAS Syndrome and Kidney Disease Without Fanconi Syndrome or Proteinuria: A Case Report.
Rudnicki, M; Mayr, JA; Zschocke, J; Antretter, H; Regele, H; Feichtinger, RG; Windpessl, M; Mayer, G; Pölzl, G;
Am J Kidney Dis. 2016; 68(6): 949-953.
Fallberichte
54th Annual Meeting of the Austrian Society of Pediatrics and Adolescent Medicine
Sperl, W
PADIATR PADOL. 2016; 51(4): 137-137.
Editorials
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
Stamberger, H; Nikanorova, M; Willemsen, MH; Accorsi, P; Angriman, M; Baier, H; Benkel-Herrenbrueck, I; Benoit, V; Budetta, M; Caliebe, A; Cantalupo, G; Capovilla, G; Casara, G; Courage, C; Deprez, M; Destree, A; Dilena, R; Erasmus, CE; Fannemel, M; Fjaer, R; Giordano, L; Helbig, KL; Heyne, HO; Klepper, J; Kluger, GJ; Lederer, D; Lodi, M; Maier, O; Merkenschlager, A; Michelberger, N; Minetti, C; Muhle, H; Phalin, J; Ramsey, K; Romeo, A; Schallner, J; Schanze, I; Shinawi, M; Sleegers, K; Sterbova, K; Syrbe, S; Traverso, M; Tzschach, A; Uldall, P; Van Coster, R; Verhelst, H; Viri, M; Winter, S; Wolff, M; Zenker, M; Zoccante, L; De Jonghe, P; Helbig, I; Striano, P; Lemke, JR; Moller, RS; Weckhuysen, S
Neurology. 2016; 86(10):954-962
Übersichtsarbeiten
Natural course of subjects with elevated liver tests and normal liver histology.
Strasser, M; Stadlmayr, A; Haufe, H; Stickel, F; Ferenci, P; Patsch, W; Feldman, A; Weghuber, D; Datz, C; Aigner, E;
Liver Int. 2016; 36(1): 119-125.
Originalarbeiten (Zeitschrift)
Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?
Thiels, C; Fleger, M; Huemer, M; Rodenburg, RJ; Vaz, FM; Houtkooper, RH; Haack, TB; Prokisch, H; Feichtinger, RG; Lücke, T; Mayr, JA; Wortmann, SB;
JIMD Rep. 2016; 29:89-93
Fallberichte
Muscle Strength and Fitness in Pediatric Obesity: a Systematic Review from the European Childhood Obesity Group.
Thivel, D; Ring-Dimitriou, S; Weghuber, D; Frelut, ML; O"Malley, G;
Obes Facts. 2016; 9(1): 52-63.
Originalarbeiten (Zeitschrift)
Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3.
Van Haute, L; Dietmann, S; Kremer, L; Hussain, S; Pearce, SF; Powell, CA; Rorbach, J; Lantaff, R; Blanco, S; Sauer, S; Kotzaeridou, U; Hoffmann, GF; Memari, Y; Kolb-Kokocinski, A; Durbin, R; Mayr, JA; Frye, M; Prokisch, H; Minczuk, M;
Nat Commun. 2016; 7: 12039
Originalarbeiten (Zeitschrift)
Physical Activity Is Associated with Attention Capacity in Adolescents.
Vanhelst, J; Beghin, L; Duhamel, A; Manios, Y; Molnar, D; De Henauw, S; Moreno, LA; Ortega, FB; Sjostrom, M; Widhalm, K; Gottrand, F
J PEDIATR-US. 2016; 168: 126-131.e2.
Originalarbeiten (Zeitschrift)
Thyroid Hormones Enhance Mitochondrial Function in Human Epidermis.
Vidali, S; Chéret, J; Giesen, M; Haeger, S; Alam, M; Watson, RE; Langton, AK; Klinger, M; Knuever, J; Funk, W; Kofler, B; Paus, R;
J Invest Dermatol. 2016; 136(10):2003-2012
Originalarbeiten (Zeitschrift)
MRI-imaging and clinical findings of eleven children with tick-borne encephalitis and review of the literature.
von Stülpnagel, C; Winkler, P; Koch, J; Zeches-Kansy, C; Schöttler-Glas, A; Wolf, G; Niller, HH; Staudt, M; Kluger, G; Rostasy, K;
Eur J Paediatr Neurol. 2016; 20(1):45-52
Originalarbeiten (Zeitschrift)
Advantages of intraosseus Access in Neonates
Wald, M
MONATSSCHR KINDERH. 2016; 164(12): 1129-1129.
Editorials
Pharmacological stimulation of GAL1R but not GAL2R attenuates kainic acid-induced neuronal cell death in the rat hippocampus.
Webling, K; Groves-Chapman, JL; Runesson, J; Saar, I; Lang, A; Sillard, R; Jakovenko, E; Kofler, B; Holmes, PV; Langel, Ü;
Neuropeptides. 2016; 58: 83-92.
Originalarbeiten (Zeitschrift)
Ala(5)-galanin (2-11) is a GAL2R specific galanin analogue.
Webling, K; Runesson, J; Lang, A; Saar, I; Kofler, B; Langel, Ü;
Neuropeptides. 2016; 60:75-82
Originalarbeiten (Zeitschrift)
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency
Wong, SYW; Beamer, LJ; Gadomski, T; Honzik, T; Mohamed, M; Wortmann, SB; Holmefjord, KSB; Mork, M; Bowling, F; Sykut-Cegielska, J; Koch, D; Ackermann, A; Stanley, CA; Rymen, D; Zeharia, A; Al-Sayed, M; Marquardt, T; Jaeken, J; Lefeber, D; Conrad, DF; Kozicz, T; Morava, E
J PEDIATR-US. 2016; 175: 130-+.
Originalarbeiten (Zeitschrift)
Guideline for Management of IgE-mediated Food Allergies
Worm, M; Reese, I; Ballmer-Weber, B; Beyer, K; Bischoff, SC; Classen, M; Fischer, PJ; Fuchs, T; Huttegger, I; Jappe, U; Klimek, L; Koletzko, B; Lange, L; Lepp, U; Mahler, V; Nast, A; Niggemann, B; Rabe, U; Raithel, M; Saloga, J; Schafer, C; Schnadt, S; Schreiber, J; Szepfalusi, Z; Treudler, R; Wagenmann, M; Watzl, B; Werfel, T; Zuberbier, T; Kleine-Tebbe, J
ALLERGOLOGIE. 2016; 39(7): 302-344.
Originalarbeiten (Zeitschrift)
Deficiency of respiratory chain complex I in Hashimoto thyroiditis.
Zimmermann, FA; Neureiter, D; Feichtinger, RG; Trost, A; Sperl, W; Kofler, B; Mayr, JA;
Mitochondrion. 2016; 26:1-6
Originalarbeiten (Zeitschrift)
Pain in the Early Phase of Pediatric Pancreatitis (PINEAPPLE Trial): Pre-Study Protocol of a Multinational Prospective Clinical Trial.
Zsoldos, F; Parniczky, A; Mosztbacher, D; Toth, A; Lasztity, N; Hegyi, P
Digestion. 2016; 93(2):121-126
Originalarbeiten (Zeitschrift)

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

QATO-CHAD - A BRIEF INSTRUMENT TO MEASURE ADDICTION TO OVEREATING IN CHILDREN AND ADOLESCENTS
Ardelt-Gattinger, E; Meindl, M; Weghuber, D; Ring-Dimitriou, S
ACTA PAEDIATR. 2016; 106: 38-38.
Abstracts (Zeitschrift)
COMBINING BIOMEDICAL, NUTRITIONAL AND PHYSICAL FITNESS PARAMETERS IN A SCHOOL-BASED INTERVENTION STUDY - PRELIMINARY DATA FROM THE MOYO-STUDY SALZBURG
Bogner, B; Schwenoha, K; Gmeinhart, K; Tiefengrabner, M; Stutz, T; Ginzinger, SW; Ardelt-Gattinger, E; Freudenthaler, T; Ring-Dimitriou, S; Vogl, M; Lirk, G; Weghuber, D; Oostingh, GJ
ACTA PAEDIATR. 2016; 106: 27-27.
Abstracts (Zeitschrift)
PHENOTYPIC VARIABILITY IN UMPS HETEROZYGOTES WITH OROTIC ACIDURIA
Chen, MA; Wortmann, SB; Botto, LD; Coughlin, CR; Descartes, M; Kyriss, M; Maranda, B; Pitt, J; Potente, C; Rodenburg, R; Sampath, S; van Settend, P; Vockley, G; Waters, PJ; Thomas, JA; Weber, JL; White, SM; Tiller, GE; Wevers, RA
MOL GENET METAB. 2016; 117(3): 250-251.
Abstracts (Zeitschrift)
EATING BEHAVIOR IN SWEDISH AND AUSTRIAN CHILDREN AND ADOLESCENTS WITH OBESITY
Ciba, I; Eriksson, J; Ardelt-Gattinger, E; Hofmann, J; Weghuber, D; Dahlbom, M; Bergsten, P; Forslund, A
ACTA PAEDIATR. 2016; 106: 30-31.
Abstracts (Zeitschrift)
MEASURING WAIST CIRCUMFERENCE IN PRESCHOOLERS
Freudenthaler, T; Weghuber, D; Trutschnig, W; Ring-Dimitriou, S
ACTA PAEDIATR. 2016; 106: 26-27.
Abstracts (Zeitschrift)
Minimale Prävalenz und Inzidenz von Angeborenen Stoffwechselstörungen in Österreich
Herbst, S; Karall, D; Scholl-Bürgi, S; Brunner-Krainz, M; Emhofer, J; Huemer, M; Kircher, SG; Koch, J; Konstantopoulou, V; Lagler, F; Löscher, WN; Maier, EM; Mayr, JA; Möslinger, D; Sunder-Plassmann, G; Sperl, W; Stulnig, TM; Wortmann, SB; Zschocke, J
Monatsschr Kinderheilkd . 2016; 164: 391-432.-54. Jahrestagung der Österreichischen Gesellschaft für Kinder- und Jugendheilkunde; 22.-24.09.2016; Feldkirch.
Abstracts (Zeitschrift)
THE REDUCTION OF WELL-BEING OF A VERY PRETERM INFANT DURING ROUTINE ECHOCARDIOGRAPHY AND ITS ASSESSMENT WITH THE NIPE MONITOR
Kaar, K; Brandner, J; Minnich, B; Hilberath, J; Weisser, C; Wald, M
EUR J PEDIATR. 2016; 175(11): 1862-1862.
Abstracts (Zeitschrift)
Minimal prevalence and incidence of inherited metabolic disorders in Austria
Karall D, Herbst S, Scholl-Buergi S, Brunner-Krainz M, Emhofer J, Huemer M, Kircher SG, ,Koch J, Konstantopoulou V, Lagler F, Loescher WN, Maier EM, Mayr JA, Moeslinger D, ,Sunder-Plassmann G, Sperl W, Stulnig TM, Wortmann SB, Zschocke J
J Inherit Metab Dis . 2016; 39(Suppl 1):35-284.-SSIEM; 06.09.-09.09.2016; Rom.
Abstracts (Zeitschrift)
Ketogenic Diet is A Potential Adjuvant Therapy for Neuroblastoma
Kofler, B; Aminzadeh-Gohari, S; Feichtinger, RG; Vidali, S; Locker, F; Rutherford, T; Donnel, MO; Stoeger-Kleiber, A; Mayr, JA; Sperl, W
PEDIATR BLOOD CANCER. 2016; 63: S198-S198.
Abstracts (Zeitschrift)
Alterations of the Oxidative Phosphorylation Complexes in Rhabdomyosarcomas
Kofler, B; Feichtinger, RG; Vidali, S; Hauser-Kronberger, C; Ridzewski, R; Hahn, H
PEDIATR BLOOD CANCER. 2016; 63: S261-S261.
Abstracts (Zeitschrift)
The role of galanin receptor 3 in psoriasis-like skin inflammation
Locker, F; Vidali, S; Holub, B; Koller, A; Brunner, S; Schwarzenbacher, D; Lang, R; Kofler, B
J INVEST DERMATOL. 2016; 136(9): S216-S216.
Abstracts (Zeitschrift)
Hyperglucagonaemia is associated with elevated plasma triglycerides and increased visceral fat in children and adolescents
Manell, H; Kristinsson, H; Kullberg, J; Paulmichl, K; Cadamuro, J; Zsoldos, F; Staaf, J; Sargsyan, E; Ahlstrom, H; Weghuber, D; Forslund, A; Bergsten, P
DIABETOLOGIA. 2016; 59: S267-S268.
Abstracts (Zeitschrift)
Hyperglucagonemia is associated with a Increase of Plasma Triglycerides as well as visceral Fat Tissue in a pediatric Cohort
Manell, H; Kristinsson, H; Kullberg, J; Paulmichl, K; Staaf, J; Cadamuro, J; Zsoldos, F; Gopel, S; Sargsyan, E; Ahlstrom, H; Weghuber, D; Forslund, A; Bergsten, P
WIEN KLIN WOCHENSCHR. 2016; 128(19-20): 747-747.
Abstracts (Zeitschrift)
Thyroid hormones enhance mitochondrial activity and biogenesis in human epidermis
Vidali, S; Cheret, J; Giesen, M; Haeger, S; Alam, M; Watson, RE; Klinger, M; Knuever, J; Kofler, B; Paus, R
J INVEST DERMATOL. 2016; 136(9): S172-S172.
Abstracts (Zeitschrift)
3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA (MEGCANN) - A NOVEL IRISH CASE REPORT
Walsh, A; Fitzsimons, P; Mayne, P; Crushell, E; Rea, D; Mayr, J; Wortmann, S; Lynch, B; Green, A; Kelleher, J
EUR J PEDIATR. 2016; 175(11): 1873-1874.
Abstracts (Zeitschrift)
Targeting tumor metabolism in the therapy of aggressive squamous cell carcinoma in patients with epidermolysis bullosa
Welponer, T; Hofbauer, JP; Gruber, C; Kienzl, M; Aminzadeh-Gohari, S; Feichtinger, R; Lang, R; Bauer, JW; Kofler, B; Reichelt, J
MELANOMA RES. 2016; 26: E77-E77.
Abstracts (Zeitschrift)

Originalbeiträge in Sammelwerk (Buchbeitrag)

Chapter 14: Disorders of Oxidative Phosphorylation.
Rahman, S; Mayr, JA;
In: Saudubray, JM; Baumgartner, MR; Walter, J; (Eds.) editors(s). Inborn Metabolic Diseases: Diagnosis and Treatment. Springer; p. 223-242. (ISBN: 978-3-662-49771-5)
CLPB Deficiency
Wortmann, SB; Wevers, RA
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993. 2016 Nov 22 [updated 2022 Mar 10]. editors(s).

2015

Beiträge in Fachzeitschriften

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.
Ahting, U; Mayr, JA; Vanlander, AV; Hardy, SA; Santra, S; Makowski, C; Alston, CL; Zimmermann, FA; Abela, L; Plecko, B; Rohrbach, M; Spranger, S; Seneca, S; Rolinski, B; Hagendorff, A; Hempel, M; Sperl, W; Meitinger, T; Smet, J; Taylor, RW; Van Coster, R; Freisinger, P; Prokisch, H; Haack, TB;
Front Genet. 2015; 6: 123
Originalarbeiten (Zeitschrift)
Energy metabolism in neuroblastoma and Wilms tumor.
Aminzadeh, S; Vidali, S; Sperl, W; Kofler, B; Feichtinger, RG;
Transl Pediatr. 2015; 4(1):20-32
Übersichtsarbeiten
The food industry and consumer nutrition and health.
Barclay, D; Haschke, F
WORLD REV NUTR DIET. 2015; 111: 198-204.
Originalarbeiten (Zeitschrift)
Effectiveness and tolerability of perampanel in children and adolescents with refractory epilepsies: first experiences.
Biro, A; Stephani, U; Tarallo, T; Bast, T; Schlachter, K; Fleger, M; Kurlemann, G; Fiedler, B; Leiz, S; Nikanorova, M; Wolff, M; Muller, A; Selch, C; Staudt, M; Kluger, G
NEUROPEDIATRICS. 2015; 46(2): 110-115.
Originalarbeiten (Zeitschrift)
24th European Childhood Obesity Group (ECOG) Meeting, Salzburg, Austria, November 13-15, 2014 Abstracts
Braet, C; Weghuber, D
APPETITE. 2015; 89: 301-330.
Abstracts (Zeitschrift)
COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency.
Brea-Calvo, G; Haack, TB; Karall, D; Ohtake, A; Invernizzi, F; Carrozzo, R; Kremer, L; Dusi, S; Fauth, C; Scholl-Bürgi, S; Graf, E; Ahting, U; Resta, N; Laforgia, N; Verrigni, D; Okazaki, Y; Kohda, M; Martinelli, D; Freisinger, P; Strom, TM; Meitinger, T; Lamperti, C; Lacson, A; Navas, P; Mayr, JA; Bertini, E; Murayama, K; Zeviani, M; Prokisch, H; Ghezzi, D;
Am J Hum Genet. 2015; 96(2): 309-317.
Originalarbeiten (Zeitschrift)
Mudds disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.
Chien, YH; Abdenur, JE; Baronio, F; Bannick, AA; Corrales, F; Couce, M; Donner, MG; Ficicioglu, C; Freehauf, C; Frithiof, D; Gotway, G; Hirabayashi, K; Hofstede, F; Hoganson, G; Hwu, WL; James, P; Kim, S; Korman, SH; Lachmann, R; Levy, H; Lindner, M; Lykopoulou, L; Mayatepek, E; Muntau, A; Okano, Y; Raymond, K; Rubio-Gozalbo, E; Scholl-Bürgi, S; Schulze, A; Singh, R; Stabler, S; Stuy, M; Thomas, J; Wagner, C; Wilson, WG; Wortmann, S; Yamamoto, S; Pao, M; Blom, HJ;
Orphanet J Rare Dis. 2015; 10:99
Übersichtsarbeiten
Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease
Danhauser, K; Smeitink, JAM; Freisinger, P; Sperl, W; Sabir, H; Hadzik, B; Mayatepek, E; Morava, E; Distelmaier, F
J INHERIT METAB DIS. 2015; 38(3): 467-475.
Originalarbeiten (Zeitschrift)
Dietary protein and amino acids intake and its relationship with blood pressure in adolescents: the HELENA STUDY.
de Moraes, AC; Bel-Serrat, S; Manios, Y; Molnar, D; Kafatos, A; Cuenca-García, M; Huybrechts, I; Sette, S; Widhalm, K; Stehle, P; Jiménez-Pavón, D; Carvalho, HB; Moreno, LA;
Eur J Public Health. 2015; 25(3): 450-456.
Originalarbeiten (Zeitschrift)
Resting Heart Rate Is Not a Good Predictor of a Clustered Cardiovascular Risk Score in Adolescents: The HELENA Study.
de Moraes, AC; Cassenote, AJ; Leclercq, C; Dallongeville, J; Androutsos, O; Török, K; González-Gross, M; Widhalm, K; Kafatos, A; Carvalho, HB; Moreno, LA;
PLoS One. 2015; 10(5):e0127530
Originalarbeiten (Zeitschrift)
Mitochondrial Haplogroup T Is Associated with Obesity in Austrian Juveniles and Adults.
Ebner, S; Mangge, H; Langhof, H; Halle, M; Siegrist, M; Aigner, E; Paulmichl, K; Paulweber, B; Datz, C; Sperl, W; Kofler, B; Weghuber, D;
PLoS One. 2015; 10(8): e0135622-e0135635.
Originalarbeiten (Zeitschrift)
The Potential Role of Iron and Copper in Pediatric Obesity and Nonalcoholic Fatty Liver Disease.
Feldman, A; Aigner, E; Weghuber, D; Paulmichl, K;
Biomed Res Int. 2015; 2015:287401
Übersichtsarbeiten
Macrophage induced gelsolin in response to Group B Streptococcus (GBS) infection.
Fettucciari, K; Ponsini, P; Palumbo, C; Rosati, E; Mannucci, R; Bianchini, R; Modesti, A; Marconi, P
Cell Microbiol. 2015; 17(1):79-104
Originalarbeiten (Zeitschrift)
Body Composition Indices and Single and Clustered Cardiovascular Disease Risk Factors in Adolescents: Providing Clinical-Based Cut-Points.
Gracia-Marco, L; Moreno, LA; Ruiz, JR; Ortega, FB; de Moraes, AC; Gottrand, F; Roccaldo, R; Marcos, A; Gómez-Martínez, S; Dallongeville, J; Kafatos, A; Molnar, D; Bueno, G; de Henauw, S; Widhalm, K; Wells, JC;
Prog Cardiovasc Dis. 2015; 58(5):555-564
Übersichtsarbeiten
UV irradiation-induced inflammation, what is the trigger?
Gratz, IK; Kofler, B
EXP DERMATOL. 2015; 24(12): 916-917.
Kurzberichte/Notes
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.
Haack, TB; Jackson, CB; Murayama, K; Kremer, LS; Schaller, A; Kotzaeridou, U; de Vries, MC; Schottmann, G; Santra, S; Büchner, B; Wieland, T; Graf, E; Freisinger, P; Eggimann, S; Ohtake, A; Okazaki, Y; Kohda, M; Kishita, Y; Tokuzawa, Y; Sauer, S; Memari, Y; Kolb-Kokocinski, A; Durbin, R; Hasselmann, O; Cremer, K; Albrecht, B; Wieczorek, D; Engels, H; Hahn, D; Zink, AM; Alston, CL; Taylor, RW; Rodenburg, RJ; Trollmann, R; Sperl, W; Strom, TM; Hoffmann, GF; Mayr, JA; Meitinger, T; Bolognini, R; Schuelke, M; Nuoffer, JM; Kölker, S; Prokisch, H; Klopstock, T;
Ann Clin Transl Neurol. 2015; 2(5): 492-509.
Originalarbeiten (Zeitschrift)
Dietary restraint and impulsivity modulate neural responses to food in adolescents with obesity and healthy adolescents.
Hofmann, J; Ardelt-Gattinger, E; Paulmichl, K; Weghuber, D; Blechert, J;
Obesity (Silver Spring). 2015; 23(11):2183-2189
Originalarbeiten (Zeitschrift)
Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data
Huemer, M; Burer, C; Jesina, P; Kozich, V; Landolt, MA; Suormala, T; Fowler, B; Augoustides-Savvopoulou, P; Blair, E; Brennerova, K; Broomfield, A; De Meirleir, L; Gokcay, G; Hennermann, J; Jardine, P; Koch, J; Lorenzl, S; Lotz-Havla, AS; Noss, J; Parini, R; Peters, H; Plecko, B; Ramos, FJ; Schlune, A; Tsiakas, K; Tansek, MZ; Baumgartner, MR
J INHERIT METAB DIS. 2015; 38(5): 957-967.
Originalarbeiten (Zeitschrift)
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.
Huemer, M; Karall, D; Schossig, A; Abdenur, JE; Al Jasmi, F; Biagosch, C; Distelmaier, F; Freisinger, P; Graham, BH; Haack, TB; Hauser, N; Hertecant, J; Ebrahimi-Fakhari, D; Konstantopoulou, V; Leydiker, K; Lourenco, CM; Scholl-Bürgi, S; Wilichowski, E; Wolf, NI; Wortmann, SB; Taylor, RW; Mayr, JA; Bonnen, PE; Sperl, W; Prokisch, H; McFarland, R;
J Inherit Metab Dis. 2015; 38(5): 905-914.
Originalarbeiten (Zeitschrift)
Leitlinien zur Ernährung in der pädiatrischen Palliativmedizin
Jones, R; Behrens, R; Brunner-Krainz, M; Heu, V; Höller, A; Huber-Zeyringer, A; Karall, D; Keck, B; Knafl, B; Koch, J; Kronberger, M; Mang, A; Maurer Fellbaum, U; Radauer, W; Rath-Wacenovsky, R; Seelbach, C; Weghuber, D; Hoffmann, KM;
PÄDIATRIE UND PÄDOLOGIE. 2015; Supplement 1(50): 4-24.
Übersichtsarbeiten
Consensus on nutrition in pediatric palliative medicine. Interdisciplinary and multidisciplinary project
Jones, R; Behrens, R; Dilch, A; Brunner-Krainz, M; Heu, V; Holler, A; Huber-Zeyringer, A; Karall, D; Keck, B; Knafl, B; Koch, J; Kronberger-Vollnhofer, M; Mang, A; Maurer-Fellbaum, U; Radauer, W; Rath-Wacenovsky, R; Seelbach, C; Weghuber, D; Hoffmann, KM
MONATSSCHR KINDERH. 2015; 163(9): 928-933.
Originalarbeiten (Zeitschrift)
Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD).
Karall, D; Brunner-Krainz, M; Kogelnig, K; Konstantopoulou, V; Maier, EM; Möslinger, D; Plecko, B; Sperl, W; Volkmar, B; Scholl-Bürgi, S;
Orphanet J Rare Dis. 2015; 10:21
Originalarbeiten (Zeitschrift)
From ventriculomegaly to severe muscular atrophy: Expansion of the clinical spectrum related to mutations in AIFM1.
Kettwig, M; Schubach, M; Zimmermann, FA; Klinge, L; Mayr, JA; Biskup, S; Sperl, W; Gärtner, J; Huppke, P;
Mitochondrion. 2015; 21: 12-18.
Originalarbeiten (Zeitschrift)
Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.
Koch, J; Freisinger, P; Feichtinger, RG; Zimmermann, FA; Rauscher, C; Wagentristl, HP; Konstantopoulou, V; Seidl, R; Haack, TB; Prokisch, H; Ahting, U; Sperl, W; Mayr, JA; Maier, EM;
Orphanet J Rare Dis. 2015; 10:40
Originalarbeiten (Zeitschrift)
Physiology, signaling, and pharmacology of galanin peptides and receptors: three decades of emerging diversity.
Lang, R; Gundlach, AL; Holmes, FE; Hobson, SA; Wynick, D; Hökfelt, T; Kofler, B;
Pharmacol Rev. 2015; 67(1): 118-175.
Originalarbeiten (Zeitschrift)
47 patients with FLNA associated periventricular nodular heterotopia.
Lange, M; Kasper, B; Bohring, A; Rutsch, F; Kluger, G; Hoffjan, S; Spranger, S; Behnecke, A; Ferbert, A; Hahn, A; Oehl-Jaschkowitz, B; Graul-Neumann, L; Diepold, K; Schreyer, I; Bernhard, MK; Mueller, F; Siebers-Renelt, U; Beleza-Meireles, A; Uyanik, G; Janssens, S; Boltshauser, E; Winkler, J; Schuierer, G; Hehr, U
ORPHANET J RARE DIS. 2015; 10: 134
Originalarbeiten (Zeitschrift)
Galanin modulates human and murine neutrophil activation in vitro.
Locker, F; Lang, AA; Koller, A; Lang, R; Bianchini, R; Kofler, B;
Acta Physiol (Oxf). 2015; 213(3):595-602
Originalarbeiten (Zeitschrift)
Adherence of patients to long-term medication: a cross-sectional study of antihypertensive regimens in Austria.
Lötsch, F; Auer-Hackenberg, L; Groger, M; Rehman, K; Morrison, V; Holmes, E; Parveen, S; Plumpton, C; Clyne, W; de Geest, S; Dobbels, F; Vrijens, B; Kardas, P; Hughes, D; Ramharter, M;
Wien Klin Wochenschr. 2015; 127(9-10):379-384
Originalarbeiten (Zeitschrift)
Glutamate-mediated upregulation of the multidrug resistance protein 2 in porcine and human brain capillaries.
Luna-Munguia, H; Salvamoser, JD; Pascher, B; Pieper, T; Getzinger, T; Kudernatsch, M; Kluger, G; Potschka, H;
J Pharmacol Exp Ther. 2015; 352(2):36-78
Originalarbeiten (Zeitschrift)
Rates of Diabetic Ketoacidosis: International Comparison With 49,859 Pediatric Patients With Type 1 Diabetes From England, Wales, the U.S., Austria, and Germany.
Maahs, DM; Hermann, JM; Holman, N; Foster, NC; Kapellen, TM; Allgrove, J; Schatz, DA; Hofer, SE; Campbell, F; Steigleder-Schweiger, C; Beck, RW; Warner, JT; Holl, RW
DIABETES CARE. 2015; 38(10): 1876-1882.
Originalarbeiten (Zeitschrift)
TMEM70 deficiency: long-term outcome of 48 patients (vol 38, pg 417, 2015)
Magner, M; Dvorakova, V; Tesarova, M; Mazurova, S; Hansikova, H; Zahorec, M; Brennerova, K; Bzduch, V; Spiegel, R; Horovitz, Y; Mandel, H; Eminoglu, FT; Mayr, JA; Koch, J; Martinelli, D; Bertini, E; Konstantopoulou, V; Smet, J; Rahman, S; Broomfield, A; Stojanovic, V; Dionisi-Vici, C; van Coster, R; Morava, E; Sperl, W; Zeman, J; Honzik, T
J INHERIT METAB DIS. 2015; 38(3): 583-584.
Korrekturen
TMEM70 deficiency: long-term outcome of 48 patients.
Magner, M; Dvorakova, V; Tesarova, M; Mazurova, S; Hansikova, H; Zahorec, M; Brennerova, K; Bzduch, V; Spiegel, R; Horovitz, Y; Mandel, H; Eminoğlu, FT; Mayr, JA; Koch, J; Martinelli, D; Bertini, E; Konstantopoulou, V; Smet, J; Rahman, S; Broomfield, A; Stojanović, V; Dionisi-Vici, C; van Coster, R; Morava-Kozicz, E; Sperl, W; Zeman, J; Honzik, T;
J Inherit Metab Dis. 2015; 38(3):417-426
Originalarbeiten (Zeitschrift)
Patatin-like phospholipase 3 (rs738409) gene polymorphism is associated with increased liver enzymes in obese adolescents and metabolic syndrome in all ages.
Mangge, H; Baumgartner, BG; Zelzer, S; Prüller, F; Schnedl, WJ; Reininghaus, EZ; Haybaeck, J; Lackner, C; Stauber, R; Aigner, E; Weghuber, D;
Aliment Pharmacol Ther. 2015; 42(1): 99-105.
Originalarbeiten (Zeitschrift)
The Role of Vitamin D in Atherosclerosis Inflammation Revisited: More a Bystander than a Player?
Mangge, H; Weghuber, D; Prassl, R; Haara, A; Schnedl, W; Postolache, TT; Fuchs, D;
Curr Vasc Pharmacol. 2015; 13(3):392-398
Originalarbeiten (Zeitschrift)
25OH-Vitamin D3 Levels in Obesity and Metabolic Syndrome-Unaltered in Young and not Correlated to Carotid IMT in All Ages.
Mangge, H; Zelzer, S; Meinitzer, A; Stelzer, I; Schnedl, WJ; Weghuber, D; Fuchs, D; Postolache, TT; Aigner, E; Datz, C; Reininghaus, EZ;
Curr Pharm Des. 2015; 21(17): 2243-2249.
Originalarbeiten (Zeitschrift)
Structural and functional rejuvenation of the aged brain by an approved anti-asthmatic drug.
Marschallinger, J; Schäffner, I; Klein, B; Gelfert, R; Rivera, FJ; Illes, S; Grassner, L; Janssen, M; Rotheneichner, P; Schmuckermair, C; Coras, R; Boccazzi, M; Chishty, M; Lagler, FB; Renic, M; Bauer, HC; Singewald, N; Blümcke, I; Bogdahn, U; Couillard-Despres, S; Lie, DC; Abbracchio, MP; Aigner, L;
Nat Commun. 2015; 6: 8466
Originalarbeiten (Zeitschrift)
Lipid metabolism in mitochondrial membranes.
Mayr, JA;
J Inherit Metab Dis. 2015; 38(1): 137-144.
Originalarbeiten (Zeitschrift)
Spectrum of combined respiratory chain defects.
Mayr, JA; Haack, TB; Freisinger, P; Karall, D; Makowski, C; Koch, J; Feichtinger, RG; Zimmermann, FA; Rolinski, B; Ahting, U; Meitinger, T; Prokisch, H; Sperl, W;
J Inherit Metab Dis. 2015; 38(4): 629-640.
Originalarbeiten (Zeitschrift)
Inhibition of Neuroblastoma Tumor Growth by Ketogenic Diet and/or Calorie Restriction in a CD1-Nu Mouse Model.
Morscher, RJ; Aminzadeh-Gohari, S; Feichtinger, RG; Mayr, JA; Lang, R; Neureiter, D; Sperl, W; Kofler, B;
PLoS One. 2015; 10(6):e0129802
Originalarbeiten (Zeitschrift)
S3 guidelines on pulmonary disease in cystic fibrosis. Module 1: diagnostics and therapy after initial detection of Pseudomonas aeruginosa
Muller, FM; Bend, J; Huttegger, I; Moller, A; Schwarz, C; Abele-Horn, M; Ballmann, M; Bargon, J; Baumann, I; Bremer, W; Bruns, R; Brunsmann, F; Fischer, R; Geidel, C; Hebestreit, H; Hirche, TO; Hogardt, M; Illing, S; Koitschev, A; Kohlhaufl, M; Mahlberg, R; Mainz, JG; Pfeiffer-Auler, S; Puderbach, M; Riedler, J; Schulte-Hubbert, B; Sedlacek, L; Sitter, H; Smaczny, C; Staab, D; Tummler, B; Vonberg, RP; Wagner, TOF; Zerlik, J; Rietschel, E
MONATSSCHR KINDERH. 2015; 163(6): 590-599.
Originalarbeiten (Zeitschrift)
ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description.
Neuhann, TM; Stegerer, A; Riess, A; Blair, E; Martin, T; Wieser, S; Klas, R; Bouman, A; Kuechler, A; Rittinger, O
AM J MED GENET A. 2015; 167(10): 2376-2381.
Originalarbeiten (Zeitschrift)
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.
Olahova, M; Hardy, SA; Hall, J; Yarham, JW; Haack, TB; Wilson, WC; Alston, CL; He, LP; Aznauryan, E; Brown, RM; Brown, GK; Morris, AAM; Mundy, H; Broomfield, A; Barbosa, IA; Simpson, MA; Deshpande, C; Moeslinger, D; Koch, J; Stettner, GM; Bonnen, PE; Prokisch, H; Lightowlers, RN; McFarland, R; Chrzanowska-Lightowlers, ZMA; Taylor, RW
Brain. 2015; 138(Pt 12):3503-3519
Originalarbeiten (Zeitschrift)
Influence of sex, age, pubertal maturation and body mass index on circulating white blood cell counts in healthy European adolescents—the HELENA study.
Pérez-de-Heredia, F; Gómez-Martínez, S; Díaz, LE; Veses, AM; Nova, E; Wärnberg, J; Huybrechts, I; Vyncke, K; Androutsos, O; Ferrari, M; Palacios, G; Wastlund, A; Kovács, É; Gottrand, F; González-Gross, M; Castillo, MJ; Sjöstrom, M; Manios, Y; Kafatos, A; Molnár, D; Widhalm, K; Moreno, LA; Marcos, A;
Eur J Pediatr. 2015; 174(8):999-1014
Originalarbeiten (Zeitschrift)
Guideline on allergen-specific immunotherapy in IgE-mediated allergic diseases
Pfaar, O; Bachert, C; Bufe, A; Buhl, R; Ebner, C; Eng, P; Friedrichs, F; Fuchs, T; Hamelmann, E; Hartwig-Bade, D; Hering, T; Huttegger, I; Jung, K; Klimek, L; Kopp, MV; Merk, H; Rabe, U; Saloga, J; Schmid-Grendelmeier, P; Schuster, A; Schwerk, N; Sitter, H; Unnpfenbach, U; Wedi, B; Wohrl, S; Worm, M; Kleine-Tebbe, J; Kaul, S; Schwalfenberg, A
ALLERGOLOGIE. 2015; 38(9): 431-470.
Originalarbeiten (Zeitschrift)
Mitochondriopathien – neue Trends in Diagnostik und Therapie
Prokisch, H; Sperl, W; Meitinger, T; Mayr, JA;
Medizinische Genetik. 2015; 27(3): 282-287.
Übersichtsarbeiten
In psychiatrically healthy individuals, overweight women but not men have lower tryptophan levels
Raheja, UK; Fuchs, D; Giegling, I; Brenner, LA; Rovner, SF; Mohyuddin, I; Weghuber, D; Mangge, H; Rujescua, D; Postolache, TT
PTERIDINES. 2015; 26(2): 79-84.
Originalarbeiten (Zeitschrift)
The combined effect of physical activity and sedentary behaviors on a clustered cardio-metabolic risk score: The Helena study.
Rendo-Urteaga, T; de Moraes, AC; Collese, TS; Manios, Y; Hagströmer, M; Sjöström, M; Kafatos, A; Widhalm, K; Vanhelst, J; Marcos, A; González-Gross, M; De Henauw, S; Ciarapica, D; Ruiz, JR; España-Romero, V; Molnár, D; Carvalho, HB; Moreno, LA;
Int J Cardiol. 2015; 186:186-195
Originalarbeiten (Zeitschrift)
Makrozephalie aus der Sicht des Klinischen Genetikers und des Stoffwechselexperten.
Rittinger, O; Karall, D; Scholl-Bürgi, S; Kronberger, G; Kotzot, D;
PÄDIATRIE UND PÄDOLOGIE. 2015; 50: 20-23.
Originalarbeiten (Zeitschrift)
Clinical, cytogenetic, and molecular findings in a patient with a 46,XX,del(18)(q22)/46,XX,idic(18)(q22) karyotype.
Rittinger, O; Krabichler, B; Kronberger, G; Kotzot, D
EUR J MED GENET. 2015; 58(11): 603-607.
Fallberichte
The n-3 long-chain PUFAs modulate the impact of the GCKR Pro446Leu polymorphism on triglycerides in adolescents.
Rousseaux, J; Duhamel, A; Dumont, J; Dallongeville, J; Molnar, D; Widhalm, K; Manios, Y; Sjöström, M; Kafatos, A; Breidenassel, C; Gonzales-Gross, M; Cuenca-Garcia, M; Censi, L; Ascensión, M; De Henauw, S; Moreno, LA; Meirhaeghe, A; Gottrand, F;
J Lipid Res. 2015; 56(9): 1774-1780.
Originalarbeiten (Zeitschrift)
Glutamate-Mediated Down-Regulation of the Multidrug-Resistance Protein BCRP/ABCG2 in Porcine and Human Brain Capillaries.
Salvamoser, JD; Avemary, J; Luna-Munguia, H; Pascher, B; Getzinger, T; Pieper, T; Kudernatsch, M; Kluger, G; Potschka, H;
Mol Pharm. 2015; 12(6):2049-2060
Originalarbeiten (Zeitschrift)
Alarin in cranial autonomic ganglia of human and rat.
Schrödl, F; Kaser-Eichberger, A; Trost, A; Strohmaier, C; Bogner, B; Runge, C; Bruckner, D; Krefft, K; Kofler, B; Brandtner, H; Reitsamer, HA;
Exp Eye Res. 2015; 131:63-68
Originalarbeiten (Zeitschrift)
Distribution of galanin receptors in the human eye.
Schrödl, F; Kaser-Eichberger, A; Trost, A; Strohmaier, C; Bogner, B; Runge, C; Bruckner, D; Motloch, K; Holub, B; Kofler, B; Reitsamer, HA;
Exp Eye Res. 2015; 138:42-51
Originalarbeiten (Zeitschrift)
The mitochondrial phosphate carrier: Role in oxidative metabolism, calcium handling and mitochondrial disease.
Seifert, EL; Ligeti, E; Mayr, JA; Sondheimer, N; Hajnóczky, G;
Biochem Biophys Res Commun. 2015; 464(2): 369-375.
Übersichtsarbeiten
Children and Young People on the Run
Sperl, W
PADIATR PADOL. 2015; 50(5): 185-185.
Editorials
Pediatrics - Start Agendas, new Tasks
Sperl, W
MONATSSCHR KINDERH. 2015; 163(1): 7-8.
Editorials
Die Leitlinien zur Ernährung in der pädiatrischen Palliativmedizin
Sperl, W;
PÄDIATRIE UND PÄDOLOGIE. 2015; 50(Supplement 1): 3-3.
Editorials
The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.
Sperl, W; Fleuren, L; Freisinger, P; Haack, TB; Ribes, A; Feichtinger, RG; Rodenburg, RJ; Zimmermann, FA; Koch, J; Rivera, I; Prokisch, H; Smeitink, JA; Mayr, JA;
J Inherit Metab Dis. 2015; 38(3): 391-403.
Originalarbeiten (Zeitschrift)
The single nucleotide polymorphism Gly482Ser in the PGC-1α gene impairs exercise-induced slow-twitch muscle fibre transformation in humans.
Steinbacher, P; Feichtinger, RG; Kedenko, L; Kedenko, I; Reinhardt, S; Schonauer, AL; Leitner, I; Sanger, AM; Stoiber, W; Kofler, B; Forster, H; Paulweber, B; Ring-Dimitriou, S
PLoS One. 2015; 10(4):e0123881
Originalarbeiten (Zeitschrift)
[Diagnostics and management of food allergies in childhood and adolescence].
Szepfalusi, Z; Spiesz, K; Huttegger, I
WIEN MED WOCHENSCHR. 2015; 165(17-18): 354-360.
Originalarbeiten (Zeitschrift)
MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention.
Tischner, C; Hofer, A; Wulff, V; Stepek, J; Dumitru, I; Becker, L; Haack, T; Kremer, L; Datta, AN; Sperl, W; Floss, T; Wurst, W; Chrzanowska-Lightowlers, Z; de Angelis, MH; Klopstock, T; Prokisch, H; Wenz, T;
Hum Mol Genet. 2015; 24(8):2247-2266
Originalarbeiten (Zeitschrift)
Cholecalciferol supplementation improves suppressive capacity of regulatory T-cells in young patients with new-onset type 1 diabetes mellitus - A randomized clinical trial.
Treiber, G; Prietl, B; Frohlich-Reiterer, E; Lechner, E; Ribitsch, A; Fritsch, M; Rami-Merhar, B; Steigleder-Schweiger, C; Graninger, W; Borkenstein, M; Pieber, TR
Clin Immunol. 2015; 161(2):217-224
Originalarbeiten (Zeitschrift)
Mitochondria: The ketogenic diet--A metabolism-based therapy.
Vidali, S; Aminzadeh, S; Lambert, B; Rutherford, T; Sperl, W; Kofler, B; Feichtinger, RG;
Int J Biochem Cell Biol. 2015; 63:55-59
Originalarbeiten (Zeitschrift)
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.
Vodopiutz, J; Seidl, R; Prayer, D; Khan, MI; Mayr, JA; Streubel, B; Steiß, JO; Hahn, A; Csaicsich, D; Castro, C; Assoum, M; Müller, T; Wieczorek, D; Mancini, GM; Sadowski, CE; Levy, N; Mégarbané, A; Godbole, K; Schanze, D; Hildebrandt, F; Delague, V; Janecke, AR; Zenker, M;
Hum Mutat. 2015; 36(11): 1021-1028.
Originalarbeiten (Zeitschrift)
SYNGAP1 Mutation in Focal and Generalized Epilepsy: A Literature Overview and A Case Report with Special Aspects of the EEG.
von Stulpnagel, C; Funke, C; Haberl, C; Hortnagel, K; Jungling, J; Weber, YG; Staudt, M; Kluger, G
NEUROPEDIATRICS. 2015; 46(4): 287-291.
Fallberichte
Cutaneous manifestations in trisomy 13 mosaicism: A rare case and review of the literature.
Wieser, I; Wohlmuth, C; Rittinger, O; Fischer, T; Wertaschnigg, D;
Am J Med Genet A. 2015; 167A(10): 2294-2299.
Originalarbeiten (Zeitschrift)
Differences in pharmacokinetics of apple polyphenols after standardized oral consumption of unprocessed apple juice.
Wruss, J; Lanzerstorfer, P; Huemer, S; Himmelsbach, M; Mangge, H; Höglinger, O; Weghuber, D; Weghuber, J;
Nutr J. 2015; 14(1): 32
Originalarbeiten (Zeitschrift)
Oxidized LDL Is Strictly Limited to Hyperthyroidism Irrespective of Fat Feeding in Female Sprague Dawley Rats.
Zelzer, S; Mangge, H; Pailer, S; Ainoedhofer, H; Kieslinger, P; Stojakovic, T; Scharnagl, H; Prüller, F; Weghuber, D; Datz, C; Haybaeck, J; Obermayer-Pietsch, B; Trummer, C; Gostner, J; Gruber, HJ;
INT J MOL SCI. 2015; 16(5): 116-198.
Originalarbeiten (Zeitschrift)
Thromboelastometric Monitoring of the Hemostatic Effect of Platelet Concentrates Transfusion in Thrombocytopenic Children Undergoing Chemotherapy.
Ziegler, B; Solomon, C; Cadamuro, J; Jones, N;
Clin Appl Thromb Hemost. 2015; 21(6): 558-564.
Originalarbeiten (Zeitschrift)
Adequacy of Infant Formula With Protein Content of 1.6 g/100 kcal for Infants Between 3 and 12 Months.
Ziegler, EE; Fields, DA; Chernausek, SD; Steenhout, P; Grathwohl, D; Jeter, JM; Nelson, SE; Haschke, F;
J Pediatr Gastroenterol Nutr. 2015; 61(5): 596-603.
Originalarbeiten (Zeitschrift)

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

Galanin and its receptors in murine microglia cells
Beyreis, M; Landrichinger, J; Wintersteller, S; Jakab, M; Kofler, B; Ritter, M; Kerschbaum, HH
ACTA PHYSIOL. 2015; 213: 165-165.
Abstracts (Zeitschrift)
DEVELOPMENT OF GLUCOSE INTOLERANCE IN OBESE CHILDREN STUDIED IN THE BETA-JUDO COHORT
Ciba, I; Weghuber, D; Manell, H; Staaf, J; Dahlbom, M; Paulmichl, K; Zsoldos, F; Widhalm, K; Bergsten, P; Forslund, A
ACTA PAEDIATR. 2015; 104: 12-12.
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Contribution of the galanin system to inflammation
Kofler, B; Brunner, S; Koller, A; Wiesmayr, S; Locker, F; Lang, R; Botz, B; Kemeny, A; Helyes, Z
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ATTENTIONAL AND MOTOR IMPULSIVITY INTERACTIVELY PREDICT LOWER PERCEIVED SELF-REGULATORY SUCCESS IN DIETING IN CHILDREN AND ADOLESCENTS
Meule, A; Hofmann, J; Weghuber, D; Ardelt-Gattinger, E; Blechert, J
ACTA PAEDIATR. 2015; 104: 19-19.
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BODY MASS AND TRAIT FOOD CRAVING INTERACTIVELY PREDICT LIKING, SELECTION AND CONSUMPTION OF HIGH-CALORIE FOODS IN CHILDREN AND ADOLESCENTS
Meule, A; Hofmann, J; Weghuber, D; Ardelt-Gattinger, E; Blechert, J
ACTA PAEDIATR. 2015; 104: 4-4.
Abstracts (Zeitschrift)
DEEP SUBCUTANEOUS ADIPOSE TISSUE CORRELATES WITH ACCENTUATED INSULIN SECRETION AND POOR INSULIN SENSITIVITY IN OBESE CHILDREN AND ADOLESCENTS
Paulmichl, K; Binder, S; Eidherr, A; Zsoldos, F; Widhalm, K; Bergsten, P; Ciba, I; Dahlbom, M; Kullberg, J; Ohlsson, H; Staaf, J; Forslund, A; Weghuber, D
ACTA PAEDIATR. 2015; 104: 2-3.
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Overweight Women but not Men Have Lower Tryptophan Levels
Raheja, UK; Mohyuddin, I; Fuchs, D; Snitker, S; Langenberg, P; Giegling, I; Hartmann, AM; Konte, B; Friedl, M; Groer, MW; Mangge, H; Weghuber, D; Reeves, GM; Rujescu, D; Postolache, TT
BIOL PSYCHIAT. 2015; 77(9): 92S-92S.
Abstracts (Zeitschrift)
LONGTERM EXPERIENCE OF AUTOMATIC REGIONAL CITRATE ANTICOAGULATION IN PEDIATRIC PATIENTS IN RENAL REPLACEMENT THERAPY
Rodl, S; Hubmann, H; Hofer, N; Ulreich, R; Marschitz, I; Cimenti, C; Grangl, G; Zobel, G
PEDIATR NEPHROL. 2015; 30(12): 2245-2245.
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IRON REMOVAL IN TRANSFUSION-ASSOCIATED IRON OVERLOAD WITH DEFEROXAMINE AND RENAL REPLACEMENT THERAPY (HDF) IN A PATIENT WITH END-STAGE RENAL DISEASE (ESRD)
Rodl, S; Hubmann, H; Ulreich, R; Marschitz, I; Hofer, N; Cimenti, C; Grangl, G; Zobel, G
PEDIATR NEPHROL. 2015; 30(12): 2244-2244.
Abstracts (Zeitschrift)
INITIAL HIGH VOLUME TREATMENT OF HYPERAMMONAEMIA IN NEONATES WITH PRISMAFLEX HF20 SETS
Rodl, S; Ulreich, R; Cimenti, C; Radauer, W; Marschitz, I; Hofer, N; Grangl, G; Hubmann, H; Zobel, G
PEDIATR NEPHROL. 2015; 30(12): 2245-2245.
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Rodl, S; Ulreich, R; Marschitz, I; Hofer, N; Hubmann, H; Cimenti, C; Grangl, G; Zobel, G
PEDIATR NEPHROL. 2015; 30(12): 2244-2245.
Abstracts (Zeitschrift)
Galanin receptor detection in the human eye: first results
Schroedl, F; Kaser-Eichberger, A; Trost, A; Bogner, B; Runge, C; Motloch, K; Bruckner, D; Strohmaier, C; Kofler, B; Reitsamer, HA
INVEST OPHTH VIS SCI. 2015; 56(7):
Abstracts (Zeitschrift)
PANCREATIC FAT IS ASSOCIATED WITH METABOLIC SYNDROME AND VISCERAL ADIPOSE TISSUE BUT NOT BETA-CELL FUNCTION OR BODY MASS INDEX IN PAEDIATRIC OBESITY
Staaf, J; Labmayr, V; Paulmichl, K; Ohlsson, H; Cen, J; Ciba, I; Dahlbom, M; Roomp, K; Anderwald, CH; Ladinger, A; Schneider, R; Forslund, A; Widhalm, K; Bergquist, J; Ahlstrom, H; Bergsten, P; Weghuber, D; Kullberg, J
ACTA PAEDIATR. 2015; 104: 2-2.
Abstracts (Zeitschrift)

Originalbeiträge in Sammelwerk (Buchbeitrag)

Psychological, Nutritional and Sports-Scientific Aspects of Obesity in Adolescence
Ardelt-Gattinger, E; Ring-Dimitriou, S; Dämon, S; Meindl, M; Miller, K; Neubauer, M; Thun-Hohenstein, L; Weghuber, D;
In: Widhalm, K (ed.) editors(s). Morbid Obesity in Adolescents. Springer; p. 159-171. (ISBN: 978-3-7091-0967-0)

2014

Beiträge in Fachzeitschriften

Short report: premastication in rural Gabon--a cross-sectional survey.
Auer-Hackenberg, L; Thol, F; Akerey-Diop, D; Zoleko, RM; Rodolphe Mackanga, J; Adegnika, AA; Mombo-Ngoma, G; Ramharter, M;
J Trop Pediatr. 2014; 60(2):154-156
Originalarbeiten (Zeitschrift)
Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations.
Banka, S; de Goede, C; Yue, WW; Morris, AA; von Bremen, B; Chandler, KE; Feichtinger, RG; Hart, C; Khan, N; Lunzer, V; Mataković, L; Marquardt, T; Makowski, C; Prokisch, H; Debus, O; Nosaka, K; Sonwalkar, H; Zimmermann, FA; Sperl, W; Mayr, JA;
Mol Genet Metab. 2014; 113(4):301-306
Originalarbeiten (Zeitschrift)
Influence of parental socio-economic status on diet quality of European adolescents: results from the HELENA study.
Béghin, L; Dauchet, L; De Vriendt, T; Cuenca-García, M; Manios, Y; Toti, E; Plada, M; Widhalm, K; Repasy, J; Huybrechts, I; Kersting, M; Moreno, LA; Dallongeville, J;
Br J Nutr. 2014; 111(7):1303-1312
Originalarbeiten (Zeitschrift)
Associations between macronutrient intake and serum lipid profile depend on body fat in European adolescents: the Healthy Lifestyle in Europe by Nutrition in Adolescence (HELENA) study.
Bel-Serrat, S; Mouratidou, T; Huybrechts, I; Labayen, I; Cuenca-Garcia, M; Palacios, G; Breidenassel, C; Molnar, D; Roccaldo, R; Widhalm, K; Gottrand, F; Kafatos, A; Manios, Y; Vyncke, K; Sjostrom, M; Libuda, L; Gomez-Martinez, S; Moreno, LA
BRIT J NUTR. 2014; 112(12): 2049-2059.
Originalarbeiten (Zeitschrift)
The assessment of eating behaviour in children who are obese: a psychological approach. A position paper from the European childhood obesity group.
Braet, C; O'Malley, G; Weghuber, D; Vania, A; Erhardt, E; Nowicka, P; Mazur, A; Frelut, ML; Ardelt-Gattinger, E;
Obes Facts. 2014; 7(3):153-164
Originalarbeiten (Zeitschrift)
GAL3 receptor KO mice exhibit an anxiety-like phenotype.
Brunner, SM; Farzi, A; Locker, F; Holub, BS; Drexel, M; Reichmann, F; Lang, AA; Mayr, JA; Vilches, JJ; Navarro, X; Lang, R; Sperk, G; Holzer, P; Kofler, B;
Proc Natl Acad Sci U S A. 2014; 111(19):7138-7143
Originalarbeiten (Zeitschrift)
Psychosocial Determinants and Perceived Environmental Barriers as Mediators of the Effectiveness of a Web-Based Tailored Intervention Promoting Physical Activity in Adolescents: The HELENA Activ-O-Meter.
Cook, TL; De Bourdeaudhuij, I; Maes, L; Haerens, L; Grammatikaki, E; Widhalm, K; Kwak, L; Plada, M; Moreno, LA; Manios, Y;
J Phys Act Health. 2014; 11(4): 741-751.
Originalarbeiten (Zeitschrift)
Moderators of the effectiveness of a web-based tailored intervention promoting physical activity in adolescents: the HELENA Activ-O-Meter.
Cook, TL; De Bourdeaudhuij, I; Maes, L; Haerens, L; Grammatikaki, E; Widhalm, K; Kwak, L; Plada, M; Moreno, LA; Zampelas, A; Tountas, Y; Manios, Y
J Sch Health. 2014; 84(4):256-266
Originalarbeiten (Zeitschrift)
More physically active and leaner adolescents have higher energy intake.
Cuenca-García, M; Ortega, FB; Ruiz, JR; Labayen, I; Moreno, LA; Patterson, E; Vicente-Rodríguez, G; González-Gross, M; Marcos, A; Polito, A; Manios, Y; Beghin, L; Huybrechts, I; Wästlund, A; Hurtig-Wennlöf, A; Hagströmer, M; Molnár, D; Widhalm, K; Kafatos, A; De Henauw, S; Castillo, MJ; Gutin, B; Sjöström, M;
J Pediatr. 2014; 164(1): 159-166.e2.
Originalarbeiten (Zeitschrift)
Physical activity modifies the associations between genetic variants and blood pressure in European adolescents.
de Moraes, ACF; Fernandez-Alvira, JM; Carvalho, HB; Meirhaeghe, A; Dallongeville, J; Kafatos, A; Marcos, A; Molnar, D; Manios, Y; Ruiz, JR; Labayen, I; Widhalm, K; Breidenassel, C; Gonzalez-Gross, M; Moreno, LA
J Pediatr. 2014; 165(5):1046-9.e1-2
Originalarbeiten (Zeitschrift)
Vitamins and iron blood biomarkers are associated with blood pressure levels in European adolescents. The HELENA study.
de Moraes, ACF; Gracia-Marco, L; Iglesia, I; Gonzalez-Gross, M; Breidenassel, C; Ferrari, M; Molnar, D; Gomez-Martinez, S; Androutsos, O; Kafatos, A; Cuenca-Garcia, M; Sjostrom, M; Gottrand, F; Widhalm, K; Carvalho, HB; Moreno, LA
Nutrition. 2014; 30(11-12):1294-1300
Originalarbeiten (Zeitschrift)
Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts.
Deutschmann, AJ; Amberger, A; Zavadil, C; Steinbeisser, H; Mayr, JA; Feichtinger, RG; Oerum, S; Yue, WW; Zschocke, J
HUM MOL GENET. 2014; 23(13): 3618-3628.
Originalarbeiten (Zeitschrift)
Mitochondrial dysfunction: a neglected component of skin diseases.
Feichtinger, RG; Sperl, W; Bauer, JW; Kofler, B;
Exp Dermatol. 2014; 23(9): 607-614.
Originalarbeiten (Zeitschrift)
Alterations of oxidative phosphorylation complexes in astrocytomas.
Feichtinger, RG; Weis, S; Mayr, JA; Zimmermann, F; Geilberger, R; Sperl, W; Kofler, B;
Glia. 2014; 62(4):514-525
Originalarbeiten (Zeitschrift)
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening
Haack, TB; Gorza, M; Danhauser, K; Mayr, JA; Haberberger, B; Wieland, T; Kremer, L; Strecker, V; Graf, E; Memari, Y; Ahting, U; Kopajtich, R; Wortmann, SB; Rodenburg, RJ; Kotzaeridou, U; Hoffmann, GF; Sperl, W; Wittig, I; Wilichowski, E; Schottmann, G; Schuelke, M; Plecko, B; Stephani, U; Strom, TM; Meitinger, T; Prokisch, H; Freisinger, P
MOL GENET METAB. 2014; 111(3): 342-352.
Originalarbeiten (Zeitschrift)
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.
Haghighi, A; Haack, TB; Atiq, M; Mottaghi, H; Haghighi-Kakhki, H; Bashir, RA; Ahting, U; Feichtinger, RG; Mayr, JA; Rötig, A; Lebre, AS; Klopstock, T; Dworschak, A; Pulido, N; Saeed, MA; Saleh-Gohari, N; Holzerova, E; Chinnery, PF; Taylor, RW; Prokisch, H;
Orphanet J Rare Dis. 2014; 9:119
Originalarbeiten (Zeitschrift)
Fast growth of infants of overweight mothers: can it be slowed down?
Haschke, F; Ziegler, EE; Grathwohl, D
ANN NUTR METAB. 2014; 64 Suppl 1: 19-24.
Originalarbeiten (Zeitschrift)
Use of cow milk in infancy. Position of the Nutrition Committee of the OGKJ (Austrian Association for Child and Adolescent Medicine)
Hauer, AC; Haiden, N; Hoffmann, KM; Pietschnig, B; Repa, A; Pollak, A; Rock, I; Scholl-Burgi, S; Karall, D; Sperl, W; Weghuber, D; Zwiauer, K
MONATSSCHR KINDERH. 2014; 162(2): 153-U85.
Kurzberichte/Notes
A newly discovered TSHR variant (L665F) associated with nonautoimmune hyperthyroidism in an Austrian family induces constitutive TSHR activation by steric repulsion between TM1 and TM7.
Jaeschke, H; Schaarschmidt, J; Eszlinger, M; Huth, S; Puttinger, R; Rittinger, O; Meiler, J; Paschke, R;
J Clin Endocrinol Metab. 2014; 99(10):E2051-E2059
Originalarbeiten (Zeitschrift)
The burden of pneumococcal meningitis in Austrian children between 2001 and 2008.
Klobassa, DS; Zoehrer, B; Paulke-Korinek, M; Gruber-Sedlmayr, U; Pfurtscheller, K; Strenger, V; Sonnleitner, A; Kerbl, R; Ausserer, B; Arocker, W; Kaulfersch, W; Hausberger, B; Covi, B; Eitelberger, F; Vécsei, A; Simma, B; Birnbacher, R; Kurz, H; Zwiauer, K; Weghuber, D; Heuberger, S; Quehenberger, F; Kollaritsch, H; Zenz, W;
Eur J Pediatr. 2014; 173(7): 871-878.
Originalarbeiten (Zeitschrift)
Reference values for leptin, cortisol, insulin and glucose, among European adolescents and their association with adiposity: the HELENA study.
Koester-Weber, T; Valtuena, J; Breidenassel, C; Beghin, L; Plada, M; Moreno, S; Huybrechts, I; Palacios, G; Gomez-Martinez, S; Albers, U; de Henauw, S; Maiani, G; Kafatos, A; Molnar, D; Sjostrom, M; Widhalm, K; Manios, Y; Moreno, LA; Marcos, A; Castillo, MJ; Stehle, P; Gonzalez-Gross, M
Nutr Hosp. 2014; 30(5):1181-1190
Originalarbeiten (Zeitschrift)
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.
Kopajtich, R; Nicholls, TJ; Rorbach, J; Metodiev, MD; Freisinger, P; Mandel, H; Vanlander, A; Ghezzi, D; Carrozzo, R; Taylor, RW; Marquard, K; Murayama, K; Wieland, T; Schwarzmayr, T; Mayr, JA; Pearce, SF; Powell, CA; Saada, A; Ohtake, A; Invernizzi, F; Lamantea, E; Sommerville, EW; Pyle, A; Chinnery, PF; Crushell, E; Okazaki, Y; Kohda, M; Kishita, Y; Tokuzawa, Y; Assouline, Z; Rio, M; Feillet, F; Mousson de Camaret, B; Chretien, D; Munnich, A; Menten, B; Sante, T; Smet, J; Régal, L; Lorber, A; Khoury, A; Zeviani, M; Strom, TM; Meitinger, T; Bertini, ES; Van Coster, R; Klopstock, T; Rötig, A; Haack, TB; Minczuk, M; Prokisch, H;
Am J Hum Genet. 2014; 95(6):708-720
Originalarbeiten (Zeitschrift)
Genotype-based databases for variants causing rare diseases.
Lanthaler, B; Wieser, S; Deutschmann, A; Schossig, A; Fauth, C; Zschocke, J; Witsch-Baumgartner, M;
Gene. 2014; 550(1): 136-140.
Originalarbeiten (Zeitschrift)
Disturbed tryptophan metabolism in cardiovascular disease.
Mangge, H; Stelzer, I; Reininghaus, E; Weghuber, D; Postolache, TT; Fuchs, D;
Curr Med Chem. 2014; 21(17): 1931-1937.
Originalarbeiten (Zeitschrift)
Obesity-related dysregulation of the tryptophan-kynurenine metabolism: role of age and parameters of the metabolic syndrome.
Mangge, H; Summers, KL; Meinitzer, A; Zelzer, S; Almer, G; Prassl, R; Schnedl, WJ; Reininghaus, E; Paulmichl, K; Weghuber, D; Fuchs, D;
Obesity (Silver Spring). 2014; 22(1):195-201
Originalarbeiten (Zeitschrift)
Lipoic acid biosynthesis defects.
Mayr, JA; Feichtinger, RG; Tort, F; Ribes, A; Sperl, W;
J Inherit Metab Dis. 2014; 37(4):553-563
Originalarbeiten (Zeitschrift)
Thermoregulatory effect of alarin, a new member of the galanin peptide family.
Mikó, A; Balla, P; Tenk, J; Balaskó, M; Soós, S; Székely, M; Brunner, S; Kofler, B; Pétervári, E;
Temperature (Austin). 2014; 1(1):51-56
Originalarbeiten (Zeitschrift)
New Aspects on the Structure of Neutrophil Extracellular Traps from Chronic Obstructive Pulmonary Disease and In Vitro Generation
Obermayer, A; Stoiber, W; Krautgartner, WD; Klappacher, M; Kofler, B; Steinbacher, P; Vitkov, L; Grabcanovic-Musija, F; Studnicka, M
PLOS ONE. 2014; 9(5): e97784
Originalarbeiten (Zeitschrift)
Neuroendocrinology of the hair follicle: principles and clinical perspectives.
Paus, R; Langan, EA; Vidali, S; Ramot, Y; Andersen, B
Trends Mol Med. 2014; 20(10):559-570
Originalarbeiten (Zeitschrift)
HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders.
Reuter, MS; Sass, JO; Leis, T; Köhler, J; Mayr, JA; Feichtinger, RG; Rauh, M; Schanze, I; Bähr, L; Trollmann, R; Uebe, S; Ekici, AB; Reis, A;
Am J Med Genet A. 2014; 164A(12):3162-3169
Fallberichte
Sleep time and cardiovascular risk factors in adolescents: The HELENA (Healthy Lifestyle in Europe by Nutrition in Adolescence) study.
Rey-López, JP; de Carvalho, HB; de Moraes, AC; Ruiz, JR; Sjöström, M; Marcos, A; Polito, A; Gottrand, F; Manios, Y; Kafatos, A; Molnar, D; Widhalm, K; De Henauw, S; Moreno, LA;
Sleep Med. 2014; 15(1): 104-110.
Originalarbeiten (Zeitschrift)
Does Genetic Variation in PPARGC1A Affect Exercise-Induced Changes in Ventilatory Thresholds and Metabolic Syndrome?
Ring-Dimiriou, S; Kedenko, L; Kedenko, I; Feichtinger, RG; Steinbacher, P; Stoiber, W; Foerster, H; Felder, T; Mueller, E; Kofler, B; Paulweber, B;
Journal of exercise physiology online / American Society of Exercise Physiologists. 2014; 17(2): 1-18.
Originalarbeiten (Zeitschrift)
Comparison of four near-infrared spectroscopy devices shows that they are only suitable for monitoring cerebral oxygenation trends in preterm infants
Schneider, A; Minnich, B; Hofstatter, E; Weisser, C; Hattinger-Jurgenssen, E; Wald, M
ACTA PAEDIATR. 2014; 103(9): 934-938.
Originalarbeiten (Zeitschrift)
PIK3R1 mutations in SHORT syndrome
Schroeder, C; Riess, A; Bonin, M; Bauer, P; Riess, O; Dobler-Neumann, M; Wieser, S; Moog, U; Tzschach, A
CLIN GENET. 2014; 86(3): 292-294.
Originalarbeiten (Zeitschrift)
Intravenous sildenafil i.v. as rescue treatment for refractory pulmonary hypertension in extremely preterm infants.
Steiner, M; Salzer, U; Baumgartner, S; Waldhoer, T; Klebermass-Schrehof, K; Wald, M; Langgartner, M; Berger, A;
Klin Padiatr. 2014; 226(4):211-215
Originalarbeiten (Zeitschrift)
Hypothalamic-pituitary-thyroid axis hormones stimulate mitochondrial function and biogenesis in human hair follicles.
Vidali, S; Knuever, J; Lerchner, J; Giesen, M; Bíró, T; Klinger, M; Kofler, B; Funk, W; Poeggeler, B; Paus, R;
J Invest Dermatol. 2014; 134(1): 33-42.
Originalarbeiten (Zeitschrift)
Dietary lipid intake only partially influences variance in serum phospholipid fatty acid composition in adolescents: impact of other dietary factors.
Vyncke, K; Huybrechts, I; Van Winckel, M; Garcia, MC; Labayen, I; Gottrand, F; Widhalm, K; Leclercq, C; Libuda, L; Manios, Y; Sjostrom, M; Molnar, D; Moreno, LA; Gonzalez-Gross, M; Spinneker, A; de Heredia, FP; Plada, M; De Henauw, S
Lipids. 2014; 49(9):881-893
Originalarbeiten (Zeitschrift)
Nasal continuous positive airway pressure and non-invasive ventilation in preterm infants
Wald, M
MONATSSCHR KINDERH. 2014; 162(9): 778-784.
Originalarbeiten (Zeitschrift)
Impact of age and metabolic syndrome on the adipokine profile in childhood and adult obesity.
Weghuber, D; Mangge, H; Hochbrugger, E; Stulnig, TM;
Exp Clin Endocrinol Diabetes. 2014; 122(6): 363-367.
Originalarbeiten (Zeitschrift)
Genetic research in Austrian children. Balancing act between milestones in medicine and millstones in bureaucracy
Zenz, W; Klobassa, DS; Sonnleitner, A; Binder, A; Sellner, A; Sperl, M; Wintergerst, U; Huemer, C; Ausserer, B; Stelzl, W; Kaulfersch, W; Grigorow, I; Biebl, A; Wimmer, A; Ortner, D; Emhofer, J; Birnbacher, R; Mostafa, G; Ihm, U; Keck, B; Farr, S; Jaros, Z; Zaunschirm, HA; Weingarten, C; Glennie, L; van Leeuwen, E; Levin, M
MONATSSCHR KINDERH. 2014; 162(12): 1110-1116.
Originalarbeiten (Zeitschrift)
Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.
Zweier, C; Rittinger, O; Bader, I; Berland, S; Cole, T; Degenhardt, F; Di Donato, N; Graul-Neumann, L; Hoyer, J; Lynch, SA; Vlasak, I; Wieczorek, D;
Am J Med Genet C Semin Med Genet. 2014; 166C(3): 290-301.
Originalarbeiten (Zeitschrift)

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

THE IMMUNOREGULATORY ROLE OF GALANIN RECEPTOR 3 IN EXPERIMENTAL ARTHRITIS
Botz, B; Kovacs, M; Nemeth, T; Mocsai, A; Brunner, S; Kofler, B; Pinter, E; Helyes, Z
J MOL NEUROSCI. 2014; 53: S172-S172.
Abstracts (Zeitschrift)
Evidence for the involvement of galanin receptor 3 in an inflammatory arthritis model of the mouse
Botz, B; Kovacs, M; Nemeth, T; Mocsai, A; Brunner, S; Kofler, B; Pinter, E; Helyes, Z
ACTA PHYSIOL. 2014; 211: 120-121.
Abstracts (Zeitschrift)
Molecular diagnosis and disease gene identification in neurological disorders using exome sequencing
Haack, TB; Freisinger, P; Mayr, H; Sperl, W; Kornblum, C; Klopstock, T; Strom, TM; Meitinger, T; Prokisch, H
EUR J NEUROL. 2014; 21: 94-94.
Abstracts (Zeitschrift)
Molecular diagnosis and disease gene identification in neurological disorders using exome sequencing
Haack, TB; Freisinger, P; Mayr, H; Sperl, W; Kornblum, C; Klopstock, T; Strom, TM; Meitinger, T; Prokisch, H
J NEUROL. 2014; 261: S68-S68.
Abstracts (Zeitschrift)
PhD ScientMed' – an interdisciplinary PhD curriculum for physicians and natural scientists
Kiesslich, T; Halilovic, M; Kainz, P; Kofler, B; Weineck, SB; Ritter, M;
Abstractband 18. Grazer Konferenz "Education for Medical Future". 2014; 70-71.-18. Grazer Konferenz "Education for Medical Future"; 03.-05.04.2014; Salzburg. (ISBN: 978-3-200-03700-7 )
Abstracts (Zeitschrift)
Galanin is a modulator for phagocytosis in microglial cells
Landrichinger, JK; Beyreis, M; Wintersteller, S; Kofler, B; Ritter, M; Kerschbaum, HH
ACTA PHYSIOL. 2014; 211: 46-46.
Abstracts (Zeitschrift)
The potential contribution of alarin to the regulation of energy balance in rats
Miko, A; Balla, P; Aubrecht, B; Furedi, N; Soos, S; Szekely, M; Balasko, M; Brunner, S; Kofler, B; Petervari, E
ACTA PHYSIOL. 2014; 211: 127-127.
Abstracts (Zeitschrift)
Galanin 3 Receptor Mediates Chronic Cigarette Smoke-Induced Structural and Functional Alterations in the Mouse Lung
Szitter, I; Brunner, S; Kofler, B; Kiss, T; Perkecz, A; Feller, D; Helyes, Z
DIGEST DIS SCI. 2014; 59(8): 1664-1664.
Abstracts (Zeitschrift)
Cholecalciferol increases suppressor function in regulatory CD4+CD25+Foxp3+T-cells from patients with new onset type 1 diabetes: a randomised controlled trial
Treiber, G; Prietl, B; Frohlich-Reiterer, E; Holler, E; Ribitsch, A; Fritsch, M; Rami-Merhar, B; Steigleder-Schweiger, C; Borkenstein, M; Pieber, TR
DIABETOLOGIA. 2014; 57: S104-S104.
Abstracts (Zeitschrift)
The Suppression Capacity of regulatory T-Cells improves itselves through Chloecalciferolgabe for young Patients after Diabetes Typ 1 New Manifestation - Says a random control Study
Treiber, G; Prietl, B; Frohlich-Reiterer, E; Holler, E; Ribitsch, A; Fritsch, M; Rami-Merhar, B; Steigleder-Schweiger, C; Borkenstein, M; Pieber, TR
WIEN KLIN WOCHENSCHR. 2014; 126: S173-S174.
Abstracts (Zeitschrift)
Assessment of Beta Cells Residual Function for Patients with Diabetes Type 1-Applications of stimulator C-Peptid (90 Minutes) as well as Harn C- Peptid during the MMTT
Treiber, G; Ribitsch, A; Frohlich-Reiterer, E; Prietl, B; Fritsch, M; Rami-Merhar, B; Steigleder-Schweiger, C; Borkenstein, M; Pieber, TR
WIEN KLIN WOCHENSCHR. 2014; 126: S174-S174.
Abstracts (Zeitschrift)
Thyroid hormones regulate key parameters of mitochondrial biology in human skin epithelium in situ and may exert anti-aging effects
Vidali, S; Giesen, M; Langton, A; Watson, R; Klinger, M; Knuever, J; Funk, W; Kofler, B; Paus, R
EXP DERMATOL. 2014; 23(3): E16-E16.
Abstracts (Zeitschrift)
Autosomal recessive Kearns-Sayre syndrome in a girl with altered mitochondrial DNA transcription caused by RRM2B gene defect
Wilichowski, EKG; Abicht, A; Mayr, H; Horvath, R; Sperl, W; Gartner, J
NEUROMUSCULAR DISORD. 2014; 24(9-10): 866-866.
Abstracts (Zeitschrift)

Originalbeiträge in Sammelwerk (Buchbeitrag)

Übersicht zu den Therapiemöglichkeiten
Deschauer, M; Freisinger, P; Sperl, W;
In: DGM - Deutsche Gesellschaft für Muskelkranke e.V. editors(s). Mitochondriale Erkrankungen - Ein Patientenratgeber. 1: Freiburg: p. 15.
Mitochondriale Erkrankungen mit Auftreten im Kindesalter
Freisinger, P; Sperl, W;
In: DGM - Deutsche Gesellschaft für Muskelkranke e.V. editors(s). Mitochondriale Erkrankungen - Ein Patientenratgeber. 1: Freiburg: p. 7-11.
Mitochondriopathien
Sperl, W; Freisinger, P
In: Reinhardt, D; Nicolai, Th; Zimmer, K editors(s). Therapie der Krankheiten im Kindes-und Jugendalter. 9. Auflage: Berlin. Heidelberg: Springer Verlag; p. 153-155. (ISBN: 978-3-642-41813-6)
Der plötzliche Säuglingstod und Stoffwechselstörungen
Sperl, W; Maier, E;
In: Kurz, R; Kenner, T; Poets, C; Kerbl, R; Vennemann, MMT; Jorch, G (Hrsg); editors(s). Der plötzliche Säuglingstod. (XIV): Wien: Springer; p. 79-84. (ISBN: 978-3-7091-1444-5)
Störungen des Energiestoffwechsels
Spiekerkötter, U; Sperl, W; Freisinger, P; Hoffmann, GF;
In: Hoffmann, G; Lentze, M; Spranger, J; Zepp, F. (Hrsg.) editors(s). Pädiatrie - Grundlagen und Praxis. 1; 4. Auflage: Springer Verlag; p. 516-539. (ISBN: 978-3-642-41865)

2013

Beiträge in Fachzeitschriften

Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA(Trp) gene.
Barić, I; Fumić, K; Petković Ramadža, D; Sperl, W; Zimmermann, FA; Muačević-Katanec, D; Mitrović, Z; Pažanin, L; Cvitanović Šojat, L; Kekez, T; Reiner, Z; Mayr, JA;
Eur J Hum Genet. 2013; 21(8):871-875
Originalarbeiten (Zeitschrift)
Galanin is a modulator of eccrine sweat gland secretion.
Bovell, DL; Holub, BS; Odusanwo, O; Brodowicz, B; Rauch, I; Kofler, B; Lang, R;
Exp Dermatol. 2013; 22(2):141-143
Letter
Expression of alarin in ependymoma and choroid plexus tumors.
Eberhard, N; Weis, S; Reitsamer, H; Kofler, B;
J Neurooncol. 2013; 114(2):165-171
Originalarbeiten (Zeitschrift)
MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation.
Finkenstedt, A; Schranz, M; Bösch, S; Karall, D; Bürgi, SS; Ensinger, C; Drach, M; Mayr, JA; Janecke, AR; Vogel, W; Nachbaur, D; Zoller, H;
JIMD Rep. 2013; 10:41-44
Originalarbeiten (Zeitschrift)
Alarin 6-25Cys antagonizes alarin-specific effects on food intake and luteinizing hormone secretion.
Fraley, GS; Leathley, E; Nickols, A; Gerometta, E; Coombs, E; Colton, S; Gallemore, S; Lindberg, A; Kofler, B;
Neuropeptides. 2013; 47(1): 37-41.
Originalarbeiten (Zeitschrift)
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.
Gai, X; Ghezzi, D; Johnson, MA; Biagosch, CA; Shamseldin, HE; Haack, TB; Reyes, A; Tsukikawa, M; Sheldon, CA; Srinivasan, S; Gorza, M; Kremer, LS; Wieland, T; Strom, TM; Polyak, E; Place, E; Consugar, M; Ostrovsky, J; Vidoni, S; Robinson, AJ; Wong, LJ; Sondheimer, N; Salih, MA; Al-Jishi, E; Raab, CP; Bean, C; Furlan, F; Parini, R; Lamperti, C; Mayr, JA; Konstantopoulou, V; Huemer, M; Pierce, EA; Meitinger, T; Freisinger, P; Sperl, W; Prokisch, H; Alkuraya, FS; Falk, MJ; Zeviani, M;
Am J Hum Genet. 2013; 93(3):482-495
Originalarbeiten (Zeitschrift)
Seasonal variation in physical activity and sedentary time in different European regions. The HELENA study.
Gracia-Marco, L; Ortega, FB; Ruiz, JR; Williams, CA; Hagströmer, M; Manios, Y; Kafatos, A; Béghin, L; Polito, A; De Henauw, S; Valtueña, J; Widhalm, K; Molnar, D; Alexy, U; Moreno, LA; Sjöström, M;
J Sports Sci. 2013; 31(16): 1831-1840.
Originalarbeiten (Zeitschrift)
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients
Grunert, SC; Mullerleile, S; De Silva, L; Barth, M; Walter, M; Walter, K; Meissner, T; Lindner, M; Ensenauer, R; Santer, R; Bodamer, OA; Baumgartner, MR; Brunner-Krainz, M; Karall, D; Haase, C; Knerr, I; Marquardt, T; Hennermann, JB; Steinfeld, R; Beblo, S; Koch, HG; Konstantopoulou, V; Scholl-Burgi, S; van Teeffelen-Heithoff, A; Suormala, T; Sperl, W; Kraus, JP; Superti-Furga, A; Schwab, KO; Sass, JO
ORPHANET J RARE DIS. 2013; 8:
Originalarbeiten (Zeitschrift)
ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy.
Haack, TB; Kopajtich, R; Freisinger, P; Wieland, T; Rorbach, J; Nicholls, TJ; Baruffini, E; Walther, A; Danhauser, K; Zimmermann, FA; Husain, RA; Schum, J; Mundy, H; Ferrero, I; Strom, TM; Meitinger, T; Taylor, RW; Minczuk, M; Mayr, JA; Prokisch, H;
Am J Hum Genet. 2013; 93(2): 211-223.
Originalarbeiten (Zeitschrift)
Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings.
Haack, TB; Rolinski, B; Haberberger, B; Zimmermann, F; Schum, J; Strecker, V; Graf, E; Athing, U; Hoppen, T; Wittig, I; Sperl, W; Freisinger, P; Mayr, JA; Strom, TM; Meitinger, T; Prokisch, H;
J Inherit Metab Dis. 2013; 36(1):55-62
Originalarbeiten (Zeitschrift)
Eraser laser enucleation of the prostate: technique and results.
Hruby, S; Sieberer, M; Schätz, T; Jones, N; Zimmermann, R; Janetschek, G; Lusuardi, L;
Eur Urol. 2013; 63(2): 341-346.
Originalarbeiten (Zeitschrift)
The effect of idursulfase on growth in patients with Hunter syndrome: data from the Hunter Outcome Survey (HOS).
Jones, SA; Parini, R; Harmatz, P; Giugliani, R; Fang, J; Mendelsohn, NJ;
Mol Genet Metab. 2013; 109(1):41-48
Originalarbeiten (Zeitschrift) – Beitrag als Studygroup-Member
Less invasive surfactant administration in extremely preterm infants: impact on mortality and morbidity.
Klebermass-Schrehof, K; Wald, M; Schwindt, J; Grill, A; Prusa, AR; Haiden, N; Hayde, M; Waldhoer, T; Fuiko, R; Berger, A;
Neonatology. 2013; 103(4):252-258
Originalarbeiten (Zeitschrift)
Timely diagnosis of malalignment of the distal extremities is crucial in morbidly obese juveniles.
Landauer, F; Huber, G; Paulmichl, K; O"Malley, G; Mangge, H; Weghuber, D;
Obes Facts. 2013; 6(6): 542-551.
Originalarbeiten (Zeitschrift)
What are effects of a spaced activation of virtual patients in a pediatric course?
Maier, EM; Hege, I; Muntau, AC; Huber, J; Fischer, MR;
BMC Med Educ. 2013; 13: 45
Originalarbeiten (Zeitschrift)
Antioxidant food supplements and obesity-related inflammation.
Mangge, H; Summers, K; Almer, G; Prassl, R; Weghuber, D; Schnedl, W; Fuchs, D;
Curr Med Chem. 2013; 20(18):2330-2337
Übersichtsarbeiten
Uric acid best predicts metabolically unhealthy obesity with increased cardiovascular risk in youth and adults.
Mangge, H; Zelzer, S; Puerstner, P; Schnedl, WJ; Reeves, G; Postolache, TT; Weghuber, D;
Obesity (Silver Spring). 2013; 21(1):E71-E77
Originalarbeiten (Zeitschrift)
Protein sets define disease states and predict in vivo effects of drug treatment.
Meierhofer, D; Weidner, C; Hartmann, L; Mayr, JA; Han, CT; Schroeder, FC; Sauer, S
Mol Cell Proteomics. 2013; 12(7):1965-1979
Originalarbeiten (Zeitschrift)
A Positive Association between T. gondii Seropositivity and Obesity.
Reeves, GM; Mazaheri, S; Snitker, S; Langenberg, P; Giegling, I; Hartmann, AM; Konte, B; Friedl, M; Okusaga, O; Groer, MW; Mangge, H; Weghuber, D; Allison, DB; Rujescu, D; Postolache, TT;
Front Public Health. 2013; 1: 73
Originalarbeiten (Zeitschrift)
Distribution of the regulatory peptide alarin in the eye of various species.
Schrödl, F; Trost, A; Strohmaier, C; Bogner, B; Runge, C; Kaser-Eichberger, A; Eberhard, N; Santic, R; Kofler, B; Reitsamer, HA;
Exp Eye Res. 2013; 106:74-81
Originalarbeiten (Zeitschrift)
Single-Nucleotide Polymorphism Array-Based Characterization of Ring Chromosome 18
Spreiz, A; Guilherme, RS; Castellan, C; Green, A; Rittinger, O; Wellek, B; Utermann, B; Erdel, M; Fauth, C; Haberlandt, E; Kim, CA; Kulikowski, LD; Meloni, VA; Utermann, G; Zschocke, J; Melaragno, MI; Kotzot, D
J PEDIATR-US. 2013; 163(4): 1174-1178.
Originalarbeiten (Zeitschrift)
Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.
Sterl, E; Paul, K; Paschke, E; Zschocke, J; Brunner-Krainz, M; Windisch, E; Konstantopoulou, V; Moslinger, D; Karall, D; Scholl-Burgi, S; Sperl, W; Lagler, F; Plecko, B
J Inherit Metab Dis. 2013; 36(1):7-13
Originalarbeiten (Zeitschrift)
Infantile peripheral neuropathy, deafness, and proximal tubulopathy associated with a novel mutation of the RRM2B gene: case study.
Stojanovic, V; Mayr, JA; Sperl, W; Barisic, N; Doronjski, A; Milak, G;
Croat Med J. 2013; 54(6): 579-584.
Fallberichte
Factors associated with vitamin D deficiency in european adolescents: the HELENA study.
Valtueña, J; González-Gross, M; Huybrechts, I; Breidenassel, C; Ferrari, M; Mouratidou, T; Gottrand, F; Dallongeville, J; Azzini, E; Sioen, I; Gómez-Martínez, S; Cuenca-García, M; Kersting, M; Stehle, P; Kafatos, A; Manios, Y; Widhalm, K; A Moreno, L;
J Nutr Sci Vitaminol (Tokyo). 2013; 59(3): 16-71.
Originalarbeiten (Zeitschrift)
Normal weight estonian prepubertal boys show a more cardiovascular-risk-associated adipose tissue distribution than austrian counterparts.
Wallner-Liebmann, SJ; Moeller, R; Horejsi, R; Jürimäe, T; Jürimäe, J; Mäestu, J; Purge, P; Saar, M; Tafeit, E; Kaimbacher, P; Kruschitz, R; Weghuber, D; Schnedl, WJ; Mangge, H;
ISRN Obes. 2013; 2013: 506751
Originalarbeiten (Zeitschrift)
Normal Weight Estonian Prepubertal Boys Show a More Cardiovascular-Risk-Associated Adipose Tissue Distribution than Austrian Counterparts
Wallner-Liebmann, SJ; Moeller, R; Horejsi, R; Jürimäe, T; Jürimäe, J; Mäestu, J; Purge, P; Saar, M; Tafeit, E; Kaimbacher, P; Kruschitz, R; Weghuber, D; Schnedl, WJ; Mangge, H;
International Scholarly Research Network obesity. 2013; 2013: 1-6.
Originalarbeiten (Zeitschrift)
Chronisch-entzündliche Darmerkrankungen bei Kindern und Jugendlichen
Weghuber, D;
Pädiatrie und Pädologie. 2013; 48(6): 14-17.
Originalarbeiten (Zeitschrift)
Interdisciplinary score for the evaluation of bariatric treatment in obese children (BAREV-C)
Weghuber, D; Miller, K; Meindl, M; Reeves, G; Postolache, T; Ring-Dimitriou, S; Dämon, S; Hattinger, J; Caroli, M; Neubauer, M; Mangge, H; Ardelt-Gattinger, E;
International journal on disability and human development : IJDHD. 2013; 12(1): 37-43.
Originalarbeiten (Zeitschrift)
High risk vs. "metabolically healthy" phenotype in juvenile obesity - neck subcutaneous adipose tissue and serum uric acid are clinically relevant.
Weghuber, D; Zelzer, S; Stelzer, I; Paulmichl, K; Kammerhofer, D; Schnedl, W; Molnar, D; Mangge, H;
Exp Clin Endocrinol Diabetes. 2013; 121(7):384-390
Originalarbeiten (Zeitschrift)
Single risk factors have greater impact on intima-media thickness than the metabolic syndrome.
Widhalm, K;
J Pediatr. 2013; 163(2):314-315
Kurzberichte/Notes
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature
Wortmann, SB; Duran, M; Anikster, Y; Barth, PG; Sperl, W; Zschocke, J; Morava, E; Wevers, RA
J INHERIT METAB DIS. 2013; 36(6): 923-928.
Originalarbeiten (Zeitschrift)
Neuropsychological Profile of Children after an Episode of Neuroborreliosis
Zotter, S; Koch, J; Schlachter, K; Katzensteiner, S; Dorninger, L; Brunner, J; Baumann, M; Wolf-Magele, A; Schmid, H; Ulmer, H; Hagspiel, S; Rostasy, K
NEUROPEDIATRICS. 2013; 44(6): 346-353.
Originalarbeiten (Zeitschrift)

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

Detection of melanocortin receptors in human eccrine sweat gland epithelia in situ and in vitro
Apel, M; Metze, D; Lang, R; Kofler, B; Luger, TA; Bohm, M
EXP DERMATOL. 2013; 22(3): E17-E17.
Abstracts (Zeitschrift)
Phenotypic spectrum of 7 patients and 4 novel MTFMT mutations
Freisinger, P; Haack, T; Mayr, J; Plecko, B; Ahting, U; Rolinski, B; Willichowski, E; Sperl; Prokisch, H
MITOCHONDRION. 2013; 13(6): 920-920.
Abstracts (Zeitschrift)
Bezafibrate as treatment option in patients with mitochondrial complex I deficiency
Freisinger, P; Haberberger, B; Strecker, V; Steger, M; Heim, K; Ahting, U; Rolinski, B; Mayr, J; Rotig, A; Sperl, W; Zeviani, M; Wittig, I; Meitinger, T; Prokisch, H
MITOCHONDRION. 2013; 13(6): 920-921.
Abstracts (Zeitschrift)
Thiamine-pyrophospholdnase-deficiency: Clinical and genotypic spectrum in 5 patients
Freisinger, P; Mayr, JA; Scheffner, T; Makowski, C; Koch, J; Ahting, U; Zimmermann, FA; Schlachter, K; Prokisch, H; Sperl, W
MITOCHONDRION. 2013; 13(6): 921-921.
Abstracts (Zeitschrift)
Exome sequencing as an approach to identify disease causing mutations in pediatric patients with mitochondrial diseases
Haack, T; Strom, T; Freisinger, P; Ahting, U; Rolinski, B; Mayr, J; Sperl, W; Meitinger, T; Prokisch, H
MITOCHONDRION. 2013; 13(6): 920-920.
Abstracts (Zeitschrift)
Anaphylaxis guidelines
Huttegger, I
ALLERGOLOGIE. 2013; 36(11): 529-531.
Abstracts (Zeitschrift)
Early onset Renal Failure due to HNF1 beta-Microdeletion (MODY 5) in a Girl with Type-1-Diabetes - an unusual Co-Incidence
Koncz, V; Rittinger, O; Hohenfellner, K; Steigleder-Schweiger, C
WIEN KLIN WOCHENSCHR. 2013; 125: S5-S5.
Abstracts (Zeitschrift)
Cofactor defects as a cause of mitochondrial encephalomyopathies
Mayr, JA; Freisinger, P; Haack, T; Koch, J; Zimmermann, F; Prokisch, H; Sperl, W
MITOCHONDRION. 2013; 13(6): 908-908.
Abstracts (Zeitschrift)
Elevated endogenous thrombin potential prior to clinical diagnosis of preeclampsia
Schweintzger, S; Weiss, EC; Schlagenhauf, A; Leschnik, B; Bernhard, H; Haidl, H; Muntean, W; Lang, U
J THROMB HAEMOST. 2013; 11: 868-869.
Abstracts (Zeitschrift)
Sengers syndrome is caused by a deficiency of the acylglycerol kinase
Sperl, W; Mayr, JA; Haack, TB; Zimmermann, FA; Meitinger, T; Prokisch, H
MITOCHONDRION. 2013; 13(6): 909-909.
Abstracts (Zeitschrift)
Key hormones of the hypothalamic-pituitary-thyroid (HPT) axis regulate mitochondrial biology in human hair follicles in situ
Vidali, S; Knuever, J; Lerchner, J; Giesen, M; Br, T; Kofler, B; Klinger, M; Poeggeler, B; Paus, R
EXP DERMATOL. 2013; 22(3): E14-E14.
Abstracts (Zeitschrift)
Autosomal-recessive Kearns-Sayre syndrome in a girl with altered mitochondrial DNA transcription caused by RRM2B gene defect
Wilichowski, E; Abicht, A; Mayr, H; Horvath, R; Sperl, W; Gartner, J
MITOCHONDRION. 2013; 13(6): 921-922.
Abstracts (Zeitschrift)

Originalbeiträge in Sammelwerk (Buchbeitrag)

Chirurgische Adipositastherapie - Interdisziplinär
Ardelt-Gattinger, E; Meindl ,M; Ring-Dimitriou, S; Thun-Hohenstein, L; Weghuber, D; Hattinger, J; Blechert, J; Gattinger, E; Dämon, S; Miller, K;
In: Ardelt-Gattinger, E; Miller, K; Weiner, R (Hrsg.) editors(s). Adipositaschirurgie interdisziplinär. München: Marseille Verlag; p. 3-40.

2012

Beiträge in Fachzeitschriften

Does bariatric surgery affect addiction to overeating and eating disorders?.
Ardelt-Gattinger, E; Meindl, M; Mangge, H; Neubauer, M; Ring-Dimitriou, S; Spendlingwimmer, J; Thun-Hohenstein, L; Weghuber, D; Miller, K;
CHIRURG. 2012; 83(6): 561-567.
Originalarbeiten (Zeitschrift)
Current evidence and future of automated erythrocyte exchange in the treatment of severe malaria.
Auer-Hackenberg, L; Winkler, S; Graninger, W; Worel, N; Ramharter, M;
Wien Klin Wochenschr. 2012; 124 Suppl 3:23-26
Übersichtsarbeiten
Pyruvate kinase is a dosage-dependent regulator of cellular amino acid homeostasis.
Bluemlein, K; Glückmann, M; Grüning, NM; Feichtinger, R; Krüger, A; Wamelink, M; Lehrach, H; Tate, S; Neureiter, D; Kofler, B; Ralser, M;
Oncotarget. 2012; 3(11): 135-169.
Originalarbeiten (Zeitschrift)
The German Network for Mitochondrial Disorders (mitoNET)
Buchner, B; Gallenmuller, C; Lautenschlager, R; Kuhn, K; Wittig, I; Schols, L; Rapaport, D; Seelow, D; Freisinger, P; Prokisch, H; Sperl, W; Wenz, T; Behl, C; Deschauer, M; Kornblum, C; Schneiderat, P; Abicht, A; Schuelke, M; Meitinger, T; Klopstock, T
MED GENET-BERLIN. 2012; 24(3): 193-199.
Originalarbeiten (Zeitschrift)
Das Deutsche Netzwerk für mitochondriale Erkrankungen (mitoNET)
Buchner, B; Gallenmüller, C; Lautenschläger, R; Kuhn, K; Witting, I; Schöls, L; Rapaport, D; Seelow, D; Freisinger, P; Prokisch, H; Sperl, W; Wenz, T; Behl, C; Deschauer, M; Kornblum, C; Schneiderat, P; Abicht, A; Schuelke, M; Meitinger, T; Klopstock, T;
Medizinische Genetik. 2012; 3: 193-199.
Übersichtsarbeiten
Epidemiology and management of group B streptococcal colonization during pregnancy in Africa.
Capan, M; Mombo-Ngoma, G; Akerey-Diop, D; Basra, A; Würbel, H; Lendamba, W; Auer-Hackenberg, L; Mackanga, R; Melser, J; Belard, S; Ramharter, M;
Wien Klin Wochenschr. 2012; 124 Suppl 3:14-16
Originalarbeiten (Zeitschrift)
Distribution of alarin immunoreactivity in the mouse brain.
Eberhard, N; Mayer, C; Santic, R; Navio, RP; Wagner, A; Bauer, HC; Sperk, G; Boehm, U; Kofler, B;
J Mol Neurosci. 2012; 46(1):18-32
Originalarbeiten (Zeitschrift)
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.
Fischer, C; Trajanoski, S; Papić, L; Windpassinger, C; Bernert, G; Freilinger, M; Schabhüttl, M; Arslan-Kirchner, M; Javaher-Haghighi, P; Plecko, B; Senderek, J; Rauscher, C; Löscher, WN; Pieber, TR; Janecke, AR; Auer-Grumbach, M;
J Neurol. 2012; 259(3): 515-523.
Originalarbeiten (Zeitschrift)
Perinatology. Importance of interdisciplinary care
Fischer, T; Wald, M
MONATSSCHR KINDERH. 2012; 160(9): 850-854.
Originalarbeiten (Zeitschrift)
Effects of alarin on food intake, body weight and luteinizing hormone secretion in male mice.
Fraley, GS; Leathley, E; Lundy, N; Chheng, E; King, I; Kofler, B;
Neuropeptides. 2012; 46(2):99-104
Originalarbeiten (Zeitschrift)
Mitochondrial diseases in childhood and adolescence
Freisinger, P; Sperl, W
MED GENET-BERLIN. 2012; 24(3): 162-+.
Originalarbeiten (Zeitschrift)
Mitochondriale Erkrankungen im Kindes- und Jugendalter
Freisinger, P; Sperl, W;
Medizinische Genetik. 2012; 3: 162-168.
Übersichtsarbeiten
Effects of ionized waterfall aerosol on pediatric allergic asthma.
Gaisberger, M; Šanović, R; Dobias, H; Kolarž, P; Moder, A; Thalhamer, J; Selimović, A; Huttegger, I; Ritter, M; Hartl, A;
J Asthma. 2012; 49(8):830-838
Originalarbeiten (Zeitschrift)
Propionic acidemia: neonatal versus selective metabolic screening
Grunert, SC; Mullerleile, S; de Silva, L; Barth, M; Walter, M; Walter, K; Meissner, T; Lindner, M; Ensenauer, R; Santer, R; Bodamer, OA; Baumgartner, MR; Brunner-Krainz, M; Karall, D; Haase, C; Knerr, I; Marquardt, T; Hennermann, JB; Steinfeld, R; Beblo, S; Koch, HG; Konstantopoulou, V; Scholl-Burgi, S; van Teeffelen-Heithoff, A; Suormala, T; Sperl, W; Kraus, JP; Superti-Furga, A; Schwab, KO; Sass, JO
J INHERIT METAB DIS. 2012; 35(1): 41-49.
Originalarbeiten (Zeitschrift)
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
Haack, TB; Haberberger, B; Frisch, EM; Wieland, T; Iuso, A; Gorza, M; Strecker, V; Graf, E; Mayr, JA; Herberg, U; Hennermann, JB; Klopstock, T; Kuhn, KA; Ahting, U; Sperl, W; Wilichowski, E; Hoffmann, GF; Tesarova, M; Hansikova, H; Zeman, J; Plecko, B; Zeviani, M; Wittig, I; Strom, TM; Schuelke, M; Freisinger, P; Meitinger, T; Prokisch, H;
J MED GENET. 2012; 49(4): 277-283.
Originalarbeiten (Zeitschrift)
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9
Haack, TB; Madignier, F; Herzer, M; Lamantea, E; Danhauser, K; Invernizzi, F; Koch, J; Freitag, M; Drost, R; Hillier, I; Haberberger, B; Mayr, JA; Ahting, U; Tiranti, V; Rotig, A; Iuso, A; Horvath, R; Tesarova, M; Baric, I; Uziel, G; Rolinski, B; Sperl, W; Meitinger, T; Zeviani, M; Freisinger, P; Prokisch, H
J MED GENET. 2012; 49(2): 83-89.
Originalarbeiten (Zeitschrift)
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.
Haack, TB; Makowski, C; Yao, Y; Graf, E; Hempel, M; Wieland, T; Tauer, U; Ahting, U; Mayr, JA; Freisinger, P; Yoshimatsu, H; Inui, K; Strom, TM; Meitinger, T; Yonezawa, A; Prokisch, H;
J INHERIT METAB DIS. 2012; 35(6): 943-948.
Originalarbeiten (Zeitschrift)
Nutrition of Premature infants after Discharge
Haiden, N; Hauer, AC; Pietschnig, B; Repa, A; Pollak, A; Rock, I; Scholl-Burgi, S; Karall, D; Sperl, W; Weghuber, D; Zwiauer, K
MONATSSCHR KINDERH. 2012; 160(5): 491-+.
Übersichtsarbeiten
Long-term outcome of children with acute cerebellitis.
Hennes, E; Zotter, S; Dorninger, L; Hartmann, H; Häusler, M; Huppke, P; Jacobs, J; Kraus, V; Makowski, C; Schlachter, K; Ulmer, H; van Baalen, A; Koch, J; Gotwald, T; Rostasy, K;
Neuropediatrics. 2012; 43(5):240-248
Originalarbeiten (Zeitschrift)
Parental Origin of de novo Cytogenetically Balanced Reciprocal Non-Robertsonian Translocations
Hockner, M; Spreiz, A; Fruhmesser, A; Tzschach, A; Dufke, A; Rittinger, O; Kalscheuer, V; Singer, S; Erdel, M; Fauth, C; Grossmann, V; Utermann, G; Zschocke, J; Kotzot, D
CYTOGENET GENOME RES. 2012; 136(4): 242-245.
Originalarbeiten (Zeitschrift)
The neuropeptide galanin is a novel inhibitor of human hair growth.
Holub, BS; Kloepper, JE; Tóth, BI; Bíro, T; Kofler, B; Paus, R;
Br J Dermatol. 2012; 167(1):10-16
Originalarbeiten (Zeitschrift)
Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis.
Honzik, T; Tesarova, M; Magner, M; Mayr, J; Jesina, P; Vesela, K; Wenchich, L; Szentivanyi, K; Hansikova, H; Sperl, W; Zeman, J;
J INHERIT METAB DIS. 2012; 35(5): 74-59.
Originalarbeiten (Zeitschrift)
Free asymmetric dimethylarginine (ADMA) is low in children and adolescents with classical phenylketonuria (PKU).
Huemer, M; Simma, B; Mayr, D; Moslinger, D; Muhl, A; Schmid, I; Ulmer, H; Bodamer, OA
J Inherit Metab Dis. 2012; 35(5):817-821
Originalarbeiten (Zeitschrift)
In vitro comparison of noise levels produced by different CPAP generators.
Kirchner, L; Wald, M; Jeitler, V; Pollak, A;
Neonatology. 2012; 101(2):95-100
Originalarbeiten (Zeitschrift)
Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.
Koene, S; Rodenburg, RJ; van der Knaap, MS; Willemsen, MA; Sperl, W; Laugel, V; Ostergaard, E; Tarnopolsky, M; Martin, MA; Nesbitt, V; Fletcher, J; Edvardson, S; Procaccio, V; Slama, A; van den Heuvel, LP; Smeitink, JA;
J INHERIT METAB DIS. 2012; 35(5): 73-47.
Originalarbeiten (Zeitschrift)
Mutation analysis in 54 propionic acidemia patients
Kraus, JP; Spector, E; Venezia, S; Estes, P; Chiang, PW; Creadon-Swindell, G; Mullerleile, S; de Silva, L; Barth, M; Walter, M; Walter, K; Meissner, T; Lindner, M; Ensenauer, R; Santer, R; Bodamer, OA; Baumgartner, MR; Brunner-Krainz, M; Karall, D; Haase, C; Knerr, I; Marquardt, T; Hennermann, JB; Steinfeld, R; Beblo, S; Koch, HG; Konstantopoulou, V; Scholl-Burgi, S; van Teeffelen-Heithoff, A; Suormala, T; Ugarte, M; Sperl, W; Superti-Furga, A; Schwab, KO; Grunert, SC; Sass, JO
J INHERIT METAB DIS. 2012; 35(1): 51-63.
Originalarbeiten (Zeitschrift)
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.
Mayr, JA; Haack, TB; Graf, E; Zimmermann, FA; Wieland, T; Haberberger, B; Superti-Furga, A; Kirschner, J; Steinmann, B; Baumgartner, MR; Moroni, I; Lamantea, E; Zeviani, M; Rodenburg, RJ; Smeitink, J; Strom, TM; Meitinger, T; Sperl, W; Prokisch, H;
AM J HUM GENET. 2012; 90(2): 314-320.
Originalarbeiten (Zeitschrift)
A 1.1 million base pair X-chromosomal deletion covering the PDHA1 and CDKL5 genes in a female patient with West syndrome and pyruvate oxidation deficiency.
Mayr, JA; Koch, J; Fauth, C; Zimmermann, FA; Rauscher, C; Zschocke, J; Sperl, W;
Neuropediatrics. 2012; 43(3):130-134
Originalarbeiten (Zeitschrift)
Functional differences between mitochondrial haplogroup T and haplogroup H in HEK293 cybrid cells.
Mueller, EE; Brunner, SM; Mayr, JA; Stanger, O; Sperl, W; Kofler, B;
PLOS ONE. 2012; 7(12): e52367
Originalarbeiten (Zeitschrift)
Mitochondrial haplogroups and control region polymorphisms in age-related macular degeneration: a case-control study.
Mueller, EE; Schaier, E; Brunner, SM; Eder, W; Mayr, JA; Egger, SF; Nischler, C; Oberkofler, H; Reitsamer, HA; Patsch, W; Sperl, W; Kofler, B;
PLoS One. 2012; 7(2):e30874
Originalarbeiten (Zeitschrift)
Trunk weighted obesity, cholesterol levels and low grade inflammation are main determinants for enhanced thrombin generation
Prueller, F; Raggam, RB; Posch, V; Almer, G; Truschnig-Wilders, M; Horejsi, R; Moller, R; Weghuber, D; Ille, R; Schnedl, W; Mangge, H
ATHEROSCLEROSIS. 2012; 220(1): 215-218.
Originalarbeiten (Zeitschrift)
Anaphylaxis. Diagnostic and therapeutic management
Rietschel, E; Huttegger, I; Lange, L; Urbanek, R
MONATSSCHR KINDERH. 2012; 160(7): 685-695.
Originalarbeiten (Zeitschrift)
Hemodiafiltration in infants with complications during peritoneal dialysis.
Rodl, S; Marschitz, I; Mache, CJ; Nagel, B; Koestenberger, M; Zobel, G
Artif Organs. 2012; 36(7):590-593
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Prospective evaluation of clinical scoring systems in infants with bronchiolitis admitted to the intensive care unit
Rodl, S; Resch, B; Hofer, N; Marschitz, I; Madler, G; Eber, E; Zobel, G
EUR J CLIN MICROBIOL. 2012; 31(10): 2667-2672.
Originalarbeiten (Zeitschrift)
Novel pharmacological chaperones that correct phenylketonuria in mice.
Santos-Sierra, S; Kirchmair, J; Perna, AM; Reiss, D; Kemter, K; Röschinger, W; Glossmann, H; Gersting, SW; Muntau, AC; Wolber, G; Lagler, FB;
HUM MOL GENET. 2012; 21(8): 1-87.
Originalarbeiten (Zeitschrift)
Building bridges - Transitions in Pediatrics
Sperl, W; Kerbl, R
MONATSSCHR KINDERH. 2012; 160(9): 837-838.
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