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Forschungsdatenbank PMU-SQQUID

UNIVERSITÄTSKLINIK FÜR KINDER- UND JUGENDHEILKUNDE:

PUBLIKATIONEN | Mitarbeiter/innen

850 Publikationen

2019

Beiträge in Fachzeitschriften

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
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)
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)
Utility of Whole Blood Thiamine Pyrophosphate Evaluation in
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):
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)
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)
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;
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. 2019; 9(1):6380
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
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.
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)
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 (
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
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)
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;
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
Übersichtsarbeiten
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)
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 Neurol. 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;
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;
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)
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)
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)
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.
Stülpnagel, CV; 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; 65:131-137
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;
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):267-272
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;
Originalarbeiten (Zeitschrift)
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

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)

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)
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)
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. 2018;
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.
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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. 2018;
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.
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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
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"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
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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.
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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
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.
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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.
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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.
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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.
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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.
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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.
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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
P NATL ACAD SCI USA. 2018; 115(16): 4158-4163.
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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.
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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
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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.
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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; Muller, T; Zimmermann, G; Schutz, 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.
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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; Faive, L; Thevenon, J; Assoum, M; Shriberg, L; Kleefstra, T; Brunner, HG; Wade, PA; Fisher, SE; Campeau, PM;
Nat Commun. 2018; 9(1): 4619
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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.
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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)
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): e2078-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

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)
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)

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.
Originalarbeiten (Zeitschrift)
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
Originalarbeiten (Zeitschrift)
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
Originalarbeiten (Zeitschrift)
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
Originalarbeiten (Zeitschrift)
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.
Originalarbeiten (Zeitschrift)
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.
Originalarbeiten (Zeitschrift)
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.
Originalarbeiten (Zeitschrift)
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
Originalarbeiten (Zeitschrift)
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.
Originalarbeiten (Zeitschrift)
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.
Originalarbeiten (Zeitschrift)
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.
Originalarbeiten (Zeitschrift)
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.
Originalarbeiten (Zeitschrift)
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
Originalarbeiten (Zeitschrift)
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.
Originalarbeiten (Zeitschrift)
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
Originalarbeiten (Zeitschrift)
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
Originalarbeiten (Zeitschrift)
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.
Originalarbeiten (Zeitschrift)
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.
Originalarbeiten (Zeitschrift)
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.
Originalarbeiten (Zeitschrift)
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
Originalarbeiten (Zeitschrift)
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.
Originalarbeiten (Zeitschrift)
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
Originalarbeiten (Zeitschrift)
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
Originalarbeiten (Zeitschrift)
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.
Originalarbeiten (Zeitschrift)
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.
Originalarbeiten (Zeitschrift)
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.
Originalarbeiten (Zeitschrift)
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
Originalarbeiten (Zeitschrift)
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
Originalarbeiten (Zeitschrift)
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.
Originalarbeiten (Zeitschrift)
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.
Originalarbeiten (Zeitschrift)
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
Originalarbeiten (Zeitschrift)
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.
Originalarbeiten (Zeitschrift)
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.
Originalarbeiten (Zeitschrift)
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
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
Originalarbeiten (Zeitschrift)
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.
Originalarbeiten (Zeitschrift)
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.
Originalarbeiten (Zeitschrift)
MEGDEL Syndrome: Expanding the Phenotype and New Mutations
Sequeira, S; Rodrigues, M; Jacinto, S; Wevers, RA; Wortmann, SB
NEUROPEDIATRICS. 2017; 48(5): 382-384.
Originalarbeiten (Zeitschrift)
Rehabilitation of Children and Adolescents in Austria A look to the past and the future
Sperl, W
PADIATR PADOL. 2017; 52(6): 256-263.
Originalarbeiten (Zeitschrift)
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.
Originalarbeiten (Zeitschrift)
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
Originalarbeiten (Zeitschrift)
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
Originalarbeiten (Zeitschrift)
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.
Originalarbeiten (Zeitschrift)
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.
Originalarbeiten (Zeitschrift)
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.
Originalarbeiten (Zeitschrift)
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.
Originalarbeiten (Zeitschrift)
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)
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)

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)
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)
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): 368-378.
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; Kudematsch, 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.
Abstracts (Zeitschrift)
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
SPRINGERPLUS. 2015; 4:
Abstracts (Zeitschrift)
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)
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.
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.
Abstracts (Zeitschrift)
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.
Abstracts (Zeitschrift)
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.
Abstracts (Zeitschrift)
TANDEM TREATMENT OF PLASMAPHERESIS AND HEMODIALYSIS WITH CITRATE ANTICOAGULATION IN CHILDREN
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

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

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)
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)
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)
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)
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;
International Scholarly Research Network obesity. 2013; 2013: 1-6.
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)
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)
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)
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)
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
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
Originalarbeiten (Zeitschrift)
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.
Editorials
Prevalence of cardiovascular risk factors in children and adolescents with type 1 diabetes in Austria.
Steigleder-Schweiger, C; Rami-Merhar, B; Waldhör, T; Fröhlich-Reiterer, E; Schwarz, I; Fritsch, M; Borkenstein, M; Schober, E;
Eur J Pediatr. 2012; 171(8):1193-1202
Originalarbeiten (Zeitschrift)
Link between leptin and interleukin-6 levels in the initial phase of obesity related inflammation
Stelzer, I; Zelzer, S; Raggam, RB; Pruller, F; Truschnig-Wilders, M; Meinitzer, A; Schnedl, WJ; Horejsi, R; Moller, R; Weghuber, D; Reeves, G; Postolache, TT; Mangge, H
TRANSL RES. 2012; 159(2): 118-124.
Originalarbeiten (Zeitschrift)
Association of symptoms of attention-deficit/hyperactivity disorder with physical activity, media time, and food intake in children and adolescents.
van Egmond-Fröhlich, AW; Weghuber, D; de Zwaan, M;
PLoS One. 2012; 7(11): e49781
Originalarbeiten (Zeitschrift)
Sudomotor function and sweat gland innervation in galanin knockout mice.
Vilches, JJ; Wynick, D; Kofler, B; Lang, R; Navarro, X;
Neuropeptides. 2012; 46(4):151-155
Originalarbeiten (Zeitschrift)
Molecular mediators of polymicrobial sepsis.
Wintersteller, S; Hahnhaussen, J; Kofler, B; Emmanuel, K;
Front Biosci (Elite Ed). 2012; 4: 258-604.
Übersichtsarbeiten

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

MULTIPLE MITOCHONDRIAL DYSFUNCTION SYNDROME CAUSED BY A MUTATION IN BOLA3
Ahting, U; Haack, TB; Haberberger, B; Mayr, JA; Zimmermann, F; Schum, J; Strecker, V; Graf, E; Hoppen, T; Wittig, I; Strom, T; Meitinger, T; Prokisch, H; Sperl, W; Freisinger, P; Rolinski, B
J INHERIT METAB DIS. 2012; 35: S14-S14.
Abstracts (Zeitschrift)
Alterations of the aerobic mitochondrial energy metabolism in brain tumors
Feichtinger, RG; Weis, S; Mayr, JA; Zimmermann, FA; Geilberger, R; Sperl, W; Kofler, B
MITOCHONDRION. 2012; 12(5): 564-564.
Abstracts (Zeitschrift)
NOVEL MUTATION IN MTMETHIONYL-TRNA-FORMYLTRANSFERASE (MTFMT): A DEFECT OF MITOCHONDRIAL TRANSLATION WITH A MODERATE PHENOTYPE
Freisinger, PJK; Haack, T; Kopajtich, R; Mayr, JA; Ahting, U; Sperl, W; Sperl, W; Plecko, B; Willichowski, E; Strom, T; Meitinger, T; Prokisch, H
J INHERIT METAB DIS. 2012; 35: S116-S116.
Abstracts (Zeitschrift)
PHARMACOLOGICAL CHAPERONE THERAPY IN MCAD DEFICIENCY: RATIONALE FOR MUTANT SPECIFIC TARGET SITES
Gersting, SW; Jank, J; Reiss, DD; Sommerhoff, CP; Maier, EM; Muntau, AC
J INHERIT METAB DIS. 2012; 35: S144-S144.
Abstracts (Zeitschrift)
BEZAFIBRATE AS TREATMENT OPTION IN PATIENTS WITH MITOCHONDRIAL COMPLEX-I DEFICIENCY
Haberberger, BM; Freisinger, P; Strecker, V; Ahting, U; Rolinski, B; Mayr, J; Sperl, W; Wittig, I; Meitinger, T; Prokisch, H
J INHERIT METAB DIS. 2012; 35: S15-S15.
Abstracts (Zeitschrift)
Galanin and its receptors as modulators of eccrine sweat gland physiology
Holub, B; Brodowicz, B; Bovell, D; Kofler, B; Lang, R
EXP DERMATOL. 2012; 21(3): e17-e18.
Abstracts (Zeitschrift)
CLINICAL OUTCOME, BIOCHEMICAL AND THERAPEUTIC FOLLOW UP IN AUSTRIAN PATIENTS WITH LONG-CHAIN 3-HYDROXY ACYL COA DEFICIENCY (LCHADD)
Karall, D; Kogelnig, K; Brunner-Krainz, M; Plecko, B; Moslinger, D; Konstantopoulou, V; Volkmar, B; Sperl, W; Scholl-Burgi, S
J INHERIT METAB DIS. 2012; 35: S69-S69.
Abstracts (Zeitschrift)
48-HOUR BH4 LOADING TEST VERSUS ALGORITHMIC PHENYLALANINE CHALLENGE: INTERIM ANALYSIS OF AN OPEN-LABEL MULTICENTRE STUDY
Lagler, FB; Brunner-Krainz, M; Moeslinger, D; Konstantopoulou, V; Roscher, A; Erwa, W; Sterl, L; Karall, D; Scholl-Burgi, S; Zschocke, J; Sperl, W; Volkmar, B; Plecko, B
J INHERIT METAB DIS. 2012; 35: S40-S40.
Abstracts (Zeitschrift)
Bariatric Surgery Affects Addiction to Overeating and Eating Disorders
Miller, K; Ardelt-Gattinger, E; Weghuber, D; Meindl, M
OBES SURG. 2012; 22(9): 1337-1337.
Abstracts (Zeitschrift)
Functional comparison of mitochondrial haplogroup T and haplogroup H in HEK293 cybrid cells
Mueller, EE; Brunner, SM; Mayr, JA; Stanger, O; Sperl, W; Kofler, B
MITOCHONDRION. 2012; 12(5): 564-564.
Abstracts (Zeitschrift)
Galanin receptor 3 is mediating important functions in polymorphonuclear neutrophils
Schmidhuber, S; Lang, A; Brodowicz, B; Locker, F; McDougall, J; Lang, R; Kofler, B
FEBS J. 2012; 279: 550-551.
Abstracts (Zeitschrift)
DIAGNOSING LSDS: A SYSTEMATIC REVIEW OF SECONDARY SCREENING AND AWARENESS RAISING PROJECTS
Stroicz, P; Sperl, W; Lagler, FB
J INHERIT METAB DIS. 2012; 35: S104-S104.
Abstracts (Zeitschrift)
Key elements of the hypothalamic-pituitary-thyroid (HPT) axis regulate mitochondrial biology in human hair follicles in situ
Vidali, S; Knuever, J; Lerchner, J; Giesen, M; Biro, T; Kofler, B; Klinger, M; Poeggeler, B; Paus, R
BBA-BIOENERGETICS. 2012; 1817: S124-S124.
Abstracts (Zeitschrift)

2011

Beiträge in Fachzeitschriften

Beratung bei Lebensstil-assoziierten Erkrankungen
Ardelt-Gattinger, E; Steindl, C; Dämon, S; Neubauer, M; Ring-Dimitriou, S; Weghuber, D;
Journal für Ernährungsmedizin. 2011; 13 (3): 12-16.
Originalarbeiten (Zeitschrift)
No evidence for a shift in pyruvate kinase PKM1 to PKM2 expression during tumorigenesis.
Bluemlein, K; Grüning, NM; Feichtinger, RG; Lehrach, H; Kofler, B; Ralser, M;
Oncotarget. 2011; 2(5): 393-400.
Originalarbeiten (Zeitschrift)
Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency
Danhauser, K; Iuso, A; Haack, TB; Freisinger, P; Brockmann, K; Mayr, JA; Meitinger, T; Prokisch, H
MOL GENET METAB. 2011; 103(2): 161-166.
Originalarbeiten (Zeitschrift)
Mitochondrial haplogroups, control region polymorphisms and malignant melanoma: a study in middle European Caucasians.
Ebner, S; Lang, R; Mueller, EE; Eder, W; Oeller, M; Moser, A; Koller, J; Paulweber, B; Mayr, JA; Sperl, W; Kofler, B;
PLoS One. 2011; 6(12):e27192
Originalarbeiten (Zeitschrift)
Loss of mitochondria in ganglioneuromas.
Feichtinger, RG; Neureiter, D; Mayr, JA; Zimmermann, FA; Berthold, F; Jones, N; Sperl, W; Kofler, B;
Front Biosci (Elite Ed). 2011; 3: 179-186.
Originalarbeiten (Zeitschrift)
Heterogeneity of mitochondrial energy metabolism in classical triphasic Wilms" tumor.
Feichtinger, RG; Neureiter, D; Royer-Pokora, B; Mayr, JA; Zimmermann, FA; Jones, N; Koegler, C; Ratschek, M; Sperl, W; Kofler, B;
Front Biosci (Elite Ed). 2011; 3: 187-193.
Originalarbeiten (Zeitschrift)
Alterations of respiratory chain complexes in sporadic pheochromocytoma.
Feichtinger, RG; Zimmermann, FA; Mayr, JA; Neureiter, D; Ratschek, M; Jones, N; Sperl, W; Kofler, B;
Front Biosci (Elite Ed). 2011; 3: 194-200.
Originalarbeiten (Zeitschrift)
Effects of Creatine Supplementation in Rett Syndrome: A Randomized, Placebo-Controlled Trial
Freilinger, M; Dunkler, D; Lanator, I; Bellarmine, C; Muhl, A; Fowler, B; Bodamer, OA
J DEV BEHAV PEDIATR. 2011; 32(6): 454-460.
Originalarbeiten (Zeitschrift)
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1.
Gregor, A; Albrecht, B; Bader, I; Bijlsma, EK; Ekici, AB; Engels, H; Hackmann, K; Horn, D; Hoyer, J; Klapecki, J; Kohlhase, J; Maystadt, I; Nagl, S; Prott, E; Tinschert, S; Ullmann, R; Wohlleber, E; Woods, G; Reis, A; Rauch, A; Zweier, C;
BMC Med Genet. 2011; 12: 106
Originalarbeiten (Zeitschrift)
Effects of galanin message-associated peptide and neuropeptide Y against various non-albicans Candida strains.
Holub, BS; Rauch, I; Radner, S; Sperl, W; Hell, M; Kofler, B;
Int J Antimicrob Agents. 2011; 38(1):76-80
Originalarbeiten (Zeitschrift)
Low levels of asymmetric dimethylarginine in children with diabetes mellitus type I compared with healthy children.
Huemer, M; Simma, B; Mayr, D; Mühl, A; Rami, B; Schober, E; Ulmer, H; Zanier, U; Bodamer, OA;
J PEDIATR-US. 2011; 158(4): 602-606.e1.
Originalarbeiten (Zeitschrift)
Early access experience with VPRIV(®): recommendations for "core data" collection.
Hughes, DA; Al-Sayed, M; Belmatoug, N; Bodamer, O; Böttcher, T; Cappellini, M; Cohen, IJ; Eagleton, T; Elstein, D; Giraldo, P; Jones, S; Kaplinsky, C; Lund, A; Machaczka, M; Mengel, E; Pastores, GM; Rosenbaum, H; Sjo, M; Tiling, N; Tsaftaridis, P; Zimran, A; Weinreb, N;
BLOOD CELL MOL DIS. 2011; 47(2): 140-142.
Letter
Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.
Hurst, JA; Jenkins, D; Vasudevan, PC; Kirchhoff, M; Skovby, F; Rieubland, C; Gallati, S; Rittinger, O; Kroisel, PM; Johnson, D; Biesecker, LG; Wilkie, AOM
Eur J Hum Genet. 2011; 19(7):757-762
Fallberichte
Rehabilitation in Childhood and Adolescence
Kerbl, R; Sperl, W
MONATSSCHR KINDERH. 2011; 159(7): 616-617.
Editorials
Hepatoblastoma in a 4-year-old girl with Fanconi anaemia.
Kopic, S; Eirich, K; Schuster, B; Hanenberg, H; Varon-Mateeva, R; Rittinger, O; Schimpl, G; Schindler, D; Jones, N;
Acta Paediatr. 2011; 100(5):780-783
Originalarbeiten (Zeitschrift)
The galanin peptide family in inflammation.
Lang, R; Kofler, B;
NEUROPEPTIDES. 2011; 45(1): 1-8.
Übersichtsarbeiten
Analysis of glucocerebrosidase activity in dry blood spots using tandem mass spectrometry.
Legnini, E; Legini, E; Orsini, JJ; Hung, C; Martin, M; Showers, A; Scarpa, M; Zhang, XK; Keutzer, J; Mühl, A; Bodamer, OA;
CLIN CHIM ACTA. 2011; 412(3-4): 343-346.
Originalarbeiten (Zeitschrift)
[Births and children after assisted reproductive technologies. A retrospective analysis with special regard to multiple pregnancies at the Department of Obstetrics and Gynecology, Paracelsus Medical University Salzburg (2000-2009) with an extrapolation for Austria].
Maier, B; Reitsamer-Tontsch, S; Weisser, C; Schreiner, B;
Z Geburtshilfe Neonatol. 2011; 215(5):187-193
Originalarbeiten (Zeitschrift)
N-terminal pro-B-type natriuretic peptide in early and advanced phases of obesity.
Mangge, H; Almer, G; Zelzer, S; Vasan, R; Kraigher-Krainer, E; Gasser, R; Schnedl, W; Ille, R; Wallner, S; Moller, R; Horejsi, R; Weghuber, D
Clin Chem Lab Med. 2011; 49(9):1539-1545
Originalarbeiten (Zeitschrift)
Rs9939609 variant of the fat mass and obesity-associated gene and trunk obesity in adolescents.
Mangge, H; Renner, W; Almer, G; Weghuber, D; Möller, R; Horejsi, R;
J Obes. 2011; 2011:186368
Originalarbeiten (Zeitschrift)
Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency.
Mayr, JA; Bodamer, O; Haack, TB; Zimmermann, FA; Madignier, F; Prokisch, H; Rauscher, C; Koch, J; Sperl, W;
Mol Genet Metab. 2011; 103(4):358-361
Originalarbeiten (Zeitschrift)
Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway.
Mayr, JA; Freisinger, P; Schlachter, K; Rolinski, B; Zimmermann, FA; Scheffner, T; Haack, TB; Koch, J; Ahting, U; Prokisch, H; Sperl, W;
Am J Hum Genet. 2011; 89(6):806-812
Originalarbeiten (Zeitschrift)
Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation.
Mayr, JA; Zimmermann, FA; Fauth, C; Bergheim, C; Meierhofer, D; Radmayr, D; Zschocke, J; Koch, J; Sperl, W;
Am J Hum Genet. 2011; 89(6):792-797
Originalarbeiten (Zeitschrift)
Deficiency of the mitochondrial phosphate carrier presenting as myopathy and cardiomyopathy in a family with three affected children.
Mayr, JA; Zimmermann, FA; Horváth, R; Schneider, HC; Schoser, B; Holinski-Feder, E; Czermin, B; Freisinger, P; Sperl, W;
Neuromuscul Disord. 2011; 21(11):803-808
Originalarbeiten (Zeitschrift)
The mitochondrial T16189C polymorphism is associated with coronary artery disease in Middle European populations.
Mueller, EE; Eder, W; Ebner, S; Schwaiger, E; Santic, D; Kreindl, T; Stanger, O; Paulweber, B; Iglseder, B; Oberkofler, H; Maier, R; Mayr, JA; Krempler, F; Weitgasser, R; Patsch, W; Sperl, W; Kofler, B;
PLOS ONE. 2011; 6(1): e16455
Originalarbeiten (Zeitschrift)
Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7
Namour, F; Dobrovoljski, G; Chery, C; Audonnet, S; Feillet, F; Sperl, W; Gueant, JL
HAEMATOL-HEMATOL J. 2011; 96(11): 1715-1719.
Originalarbeiten (Zeitschrift)
Clinical aspects of 2009 pandemic influenza A (H1N1) virus infection in Austria.
Poeppl, W; Hell, M; Herkner, H; Stoiser, B; Fritsche, G; Schurz-Bamieh, N; Poeppl, G; Gattringer, R; Jones, N; Maass, M; Egle, A; Burgmann, H;
Infection. 2011; 39(4):341-352
Originalarbeiten (Zeitschrift)
One-year safe use of the Prismaflex HF20 (R) disposable set in infants in 220 renal replacement treatment sessions
Rodl, S; Marschitz, I; Mache, CJ; Koestenberger, M; Madler, G; Rehak, T; Zobel, G
INTENS CARE MED. 2011; 37(5): 884-885.
Letter
First experience with the Prismaflex HF 20 set in four infants
Rodl, S; Marschitz, I; Mache, CJ; Koestenberger, M; Madler, G; Rehak, T; Zobel, G
INT J ARTIF ORGANS. 2011; 34(1): 10-15.
Originalarbeiten (Zeitschrift)
Continuous renal replacement therapy with Prismaflex HF20 disposable set in children from 4 to 15 kg.
Rödl, S; Marschitz, I; Mache, CJ; Koestenberger, M; Madler, G; Zobel, G;
ASAIO J. 2011; 57(5):451-455
Originalarbeiten (Zeitschrift)
Functional Outcome of Children With Mitochondrial Diseases
Rogac, M; Meznaric, M; Zeviani, M; Sperl, W; Neubauer, D
PEDIATR NEUROL. 2011; 44(5): 340-346.
Originalarbeiten (Zeitschrift)
Rehabilitation for children and adolescents in Austria. State of the art and future perspectives
Sperl, W; Nemeth, C; Fulop, G; Koller, I; Vavrik, K; Bernert, G; Kerbl, R
MONATSSCHR KINDERH. 2011; 159(7): 618-+.
Originalarbeiten (Zeitschrift)
Mitochondrial diseases. An update
Sperl, W; Prokisch, H; Karall, D; Mayr, JA; Freisinger, P
MONATSSCHR KINDERH. 2011; 159(9): 848-854.
Originalarbeiten (Zeitschrift)
Variety of expiratory resistance between different continuous positive airway pressure devices for preterm infants.
Wald, M; Kribs, A; Jeitler, V; Lirsch, D; Pollak, A; Kirchner, L;
Artif Organs. 2011; 35(1):22-28
Originalarbeiten (Zeitschrift)
Lower limb salvage in a 7-month-old infant using free tissue transfer
Wechselberger, G; Radauer, W; Schimpl, G; Kholosy, H; Ensat, F; Edelbauer, M; Hladik, M
J PEDIATR SURG. 2011; 46(9): 1852-1854.
Fallberichte
Vascular function in obese children with non-alcoholic fatty liver disease.
Weghuber, D; Roden, M; Franz, C; Chmelik, M; Torabia, S; Nowotny, P; Gruber, S; Waldhäusl, W; Klingler, A; Bieglmayer, C; Bischof, M; Wolzt, M; Schaller, G; Widhalm, K;
INT J PEDIATR OBES. 2011; 6(2): 120-127.
Originalarbeiten (Zeitschrift)
Food-induced anaphylaxis and cofactors - data from the anaphylaxis registry
Worm, M; Scherer, K; Kohli-Wiesner, A; Rueff, F; Mahler, V; Lange, L; Treudler, R; Rietschel, E; Szepfalusi, Z; Lang, R; Rabe, U; Reese, T; Schwerk, N; Beyer, K; Hompes, S; Bircher, A; Przybilla, B; Hawranek, T; Hansen, G; Friedrichs, F; Merk, H; Tenbrock, K; Lehmann, S; Gerstlauer, M; Kleine-Tebbe, J; Niggemann, B; Dickel, H; Bucheler, M; Bieber, T; Hanfland, J; Schmitt-Grohe, S; Vlajnic, D; Heckmann, V; Nemat, K; Schakel, K; Nordwig, A; Schuster, A; Schweitzer-Krantz, S; Hillen, U; Kopp, M; Szliska, C; Klinge, J; Neustadter, I; Fuchs, T; Bruns, R; Marsch, C; Kreft, B; Coors, E; Rebien, W; Wedi, B; Pfohler, C; Rett, M; Henzgen, M; Vohringer, P; Folster-Holst, R; Hunzelmann, N; Siebenhaar, G; Nestoris, S; Schirpke, C; Grabbe, J; Stichtenoth, G; Ring, J; Brockow, K; Brehler, R; Yildiz, I; Volkmuth, S; Geissler, M; Polz, M; Riffelmann, F; Thies, S; Lepp, U; Rabe, U; Rebmann, H; Spindler, T; Klimek, L; Pfaar, O; Brosi, W; Aberer, W; Varga, E; Reider, N; Huttegger, I; Kinaciyan, T; Hoffmann-Sommergruber, K; Eng, P; Helbling, A; Eigenmann, P; Guggenheim, R; Schmid-Grendelmeier, P
ALLERGOLOGIE. 2011; 34(7): 329-337.
Originalarbeiten (Zeitschrift)
High density lipoprotein cholesterol level is a robust predictor of lipid peroxidation irrespective of gender, age, obesity, and inflammatory or metabolic biomarkers
Zelzer, S; Fuchs, N; Almer, G; Raggam, RB; Pruller, F; Truschnig-Wilders, M; Schnedl, W; Horejsi, R; Moller, R; Weghuber, D; Ille, R; Mangge, H
CLIN CHIM ACTA. 2011; 412(15-16): 1345-1349.
Originalarbeiten (Zeitschrift)
Respiratory chain complex I is a mitochondrial tumor suppressor of oncocytic tumors.
Zimmermann, FA; Mayr, JA; Feichtinger, R; Neureiter, D; Lechner, R; Koegler, C; Ratschek, M; Rusmir, H; Sargsyan, K; Sperl, W; Kofler, B;
Front Biosci (Elite Ed). 2011; 3: 315-325.
Übersichtsarbeiten

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

Addictionxxxs Role in Obese Children and Adolescents
Ardelt-Gattinger, E; Meindl, M; Mangge, H; Ring-Dimitriou, S; Thun-Hohenstein, L; Weghuber, D
OBES SURG. 2011; 21(8): 975-976.
Abstracts (Zeitschrift)
mitoNET-German network for mitochondrial disorders: progress report after 2 years duration
Buchner, B; Wittig, I; Schaegger, H; Schols, L; Rapaport, D; Dimmer, K; Prokisch, H; Schulke-Gerstenfeld, M; Seelow, D; Freisinger, P; Sperl, W; Kunz, W; Abicht, A; Schneiderat, P; Yilmaz, A; Kuhn, K; Saft, C; Guttsches, A; Kornblum, C; Schafer, J; Deschauer, M; Knop, KC; Korinthenberg, R; Wilichowski, E; Ebinger, F; von Kleist-Retzow, J; Muller-Felber, W; Wornle, S; Krageloh-Mann, I; Obermaier-Kusser, B; Meitinger, T; Klopstock, T
J NEUROL. 2011; 258: 197-197.
Abstracts (Zeitschrift)
129 PATIENTS WITH NEONATAL ONSET OF MITOCHONDRIAL DISORDER: A RETROSPECTIVE STUDY
Magner, M; Honzik, T; Tesarova, M; Mayr, J; Jesina, P; Vesela, K; Wenchich, L; Hansikova, H; Sperl, W; Zeman, J
J INHERIT METAB DIS. 2011; 34: S170-S170.
Abstracts (Zeitschrift)
DEFECTS IN THE OXIDATION OF PYRUVATE DUE TO NOVEL DEFICIENCIES IN COFACTOR METABOLISM
Mayr, JA; Fauth, C; Schlachter, K; Bergheim, C; Rolinski, B; Zimmermann, FA; Scheffner, T; Ahting, U; Prokisch, H; Sperl, W
J INHERIT METAB DIS. 2011; 34: S168-S168.
Abstracts (Zeitschrift)
MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY PRESENTING AS (CARDIO-)MYOPATHY IN A FAMILY WITH THREE AFFECTED CHILDREN
Mayr, JA; Zimmermann, FA; Horvath, R; Schneider, HC; Schoser, B; Holinski-Feder, E; Czermin, B; Freisinger, P; Sperl, W
J INHERIT METAB DIS. 2011; 34: S166-S166.
Abstracts (Zeitschrift)
LUMINAL EXPRESSION OF CUBILIN IS IMPAIRED IN IMERSLUND-GRDSBECK SYNDROME WITH COMPOUND AMN MUTATIONS IN INTRON 3 AND EXON 7
Namour, F; Dobrovoljski, G; Chery, C; Audonnet, S; Jeannesson, E; Feillet, F; Sperl, W; Gueant, JL
J INHERIT METAB DIS. 2011; 34: S120-S120.
Abstracts (Zeitschrift)
PROPIONIC ACIDEMIA: DIAGNOSTIC, CLINICAL AND THERAPEUTIC ASPECTS-NEONATAL VERSUS SELECTIVE METABOLIC SCREENING
Sass, JO; 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; Grunert, SC
J INHERIT METAB DIS. 2011; 34: S132-S132.
Abstracts (Zeitschrift)
THE DIFFICULTY IN THE DIAGNOSIS OF PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY IN 6 HETEROZYGOUS FEMALES WITH NOVEL PDHA1 MUTATIONS
Sperl, W; Freisinger, P; Trollmann, R; Koch, J; Rauscher, C; Zimmermann, FA; Volkmar, B; Ahting, U; Rolinski, B; Mayr, JA
J INHERIT METAB DIS. 2011; 34: S167-S167.
Abstracts (Zeitschrift)
THE EXPRESSION OF NEUROPEPTIDE GALANIN IS SIGNIFICANTLY DOWN REGULATED IN POLYMICROBIAL SEPSIS
Wintersteller, S; Hahnhaussen, J; Sperl, W; Emmanuel, K; Kofler, B
INFLAMM RES. 2011; 60: 156-156.
Abstracts (Zeitschrift)

Originalbeiträge in Sammelwerk (Buchbeitrag)

Energy Metabolism.
Sperl, W;
In: Zschocke J;Hoffmann G (Ed.) editors(s). Vademecum Metabolicum..
Mitochondriopathien.
Sperl, W; Karall, D; Freisinger, P; Mayr, JA;
In: Aksu, F (Ed.) editors(s). Neuropädiatrie.. p. 432.

2010

Beiträge in Fachzeitschriften

Uncommon manifestations of neuroborreliosis in children.
Baumann, M; Birnbacher, R; Koch, J; Strobl, R; Rostasy, K
EUR J PAEDIATR NEURO. 2010; 14(3): 274-277.
Fallberichte
Inborn errors of metabolism
Bodamer, O
MONATSSCHR KINDERH. 2010; 158(10): 987-994.
Originalarbeiten (Zeitschrift)
Febrile urinary tract infection Does the antibiotic prophylaxis make sense?
Bodamer, O
MONATSSCHR KINDERH. 2010; 158(2): 112-113.
Editorials
Mitochondrial genotype and breast cancer predisposition
Czarnecka, AM; Krawczyk, T; Plak, K; Klemba, A; Zdrozny, M; Arnold, RS; Kofler, B; Golik, P; Szybinska, A; Lubinski, J; Mossakowska, M; Bartnik, E; Petros, JA
ONCOL REP. 2010; 24(6): 1521-1534.
Originalarbeiten (Zeitschrift)
Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy.
Diggle, CP; Carr, IM; Zitt, E; Wusik, K; Hopkin, RJ; Prada, CE; Calabrese, O; Rittinger, O; Punaro, MG; Markham, AF; Bonthron, DT;
Rheumatology (Oxford). 2010; 49(6):105-162
Originalarbeiten (Zeitschrift)
Hypothermia in neonates with encephalopathy
Dobrovoljski, G
MONATSSCHR KINDERH. 2010; 158(12): 1202-1202.
Editorials
Low aerobic mitochondrial energy metabolism in poorly- or undifferentiated neuroblastoma
Feichtinger, RG; Zimmermann, F; Mayr, JA; Neureiter, D; Hauser-Kronberger, C; Schilling, FH; Jones, N; Sperl, W; Kofler, B
BMC CANCER. 2010; 10: 149
Originalarbeiten (Zeitschrift)
Osteopetrosis due to homozygous chloride channel ClCN7 mutation mimicking metabolic disease with haematological and neurological impairment.
Furthner, D; Biebl, A; Weinzettel, R; Schmitt, K; Lahr, G; Ebetsberger, G; Rittinger, O; Schulz, AS;
Klin Padiatr. 2010; 222(3):180-183
Originalarbeiten (Zeitschrift)
Histology and Synchrotron Radiation-Based Microtomography of the Inner Ear in a Molecularly Confirmed Case of CHARGE Syndrome
Glueckert, R; Rask-Andersen, H; Sergi, C; Schmutzhard, J; Mueller, B; Beckmann, F; Rittinger, O; Hoefsloot, LH; Schrott-Fischer, A; Janecke, AR
AM J MED GENET A. 2010; 152A(3): 665-673.
Originalarbeiten (Zeitschrift)
Parental origin of apparently balanced de novo complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite-mediated haplotype analysis
Grossmann, V; Hockner, M; Karmous-Benailly, H; Liang, D; Puttinger, R; Quadrelli, R; Rothlisberger, B; Huber, A; Wu, L; Spreiz, A; Fauth, C; Erdel, M; Zschocke, J; Utermann, G; Kotzot, D
CLIN GENET. 2010; 78(6): 548-553.
Originalarbeiten (Zeitschrift)
Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect.
Herzer, M; Koch, J; Prokisch, H; Rodenburg, R; Rauscher, C; Radauer, W; Forstner, R; Pilz, P; Rolinski, B; Freisinger, P; Mayr, JA; Sperl, W;
NEUROPEDIATRICS. 2010; 41(1): 30-34.
Originalarbeiten (Zeitschrift)
Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation
Honzik, T; Tesarova, M; Mayr, JA; Hansikova, H; Jesina, P; Bodamer, O; Koch, J; Magner, M; Freisinger, P; Huemer, M; Kostkova, O; van Coster, R; Kmoch, S; Houstek, J; Sperl, W; Zeman, J
ARCH DIS CHILD. 2010; 95(4): 296-301.
Originalarbeiten (Zeitschrift)
The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC).
Iqbal, F; Item, CB; Vilaseca, MA; Jalan, A; Mühl, A; Couce, ML; Duat, A; Delgado, MP; Bosch, J; Puche, A; Campistol, J; Pineda, M; Bodamer, OA;
MOL GENET METAB. 2010; 100(1): 42-45.
Originalarbeiten (Zeitschrift)
Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-l-iduronidase mutations causing mucopolysaccharidosis type I.
Kasper, DC; Iqbal, F; Dvorakova, L; Zeman, J; Magner, M; Bodamer, O; Pollak, A; Herkner, KR; Item, CB;
CLIN CHIM ACTA. 2010; 411(5-6): 345-350.
Originalarbeiten (Zeitschrift)
Specific immunotherapy (hyposensitization) for IgE-mediated allergic diseases
Kleine-Tebbe, J; Bufe, A; Ebner, C; Eigenmann, P; Friedrichs, F; Fuchs, T; Huttegger, I; Jung, K; Klimek, L; Kopp, M; Lassig, W; Merk, H; Niggemann, B; Rabe, U; Saloga, J; Schmid-Grendelmeier, P; Sitter, H; Virchow, JC; Wagenmann, M; Wedi, B; Worm, M; Hering, T; Koch, A; Lenders, H; Musken, H; Schnitzer, S; Stuck, BA; Voigtmann, I; Wehrmann, W; Kaul, S; Luther, B; Schwalfenberg, A
ALLERGOLOGIE. 2010; 33(1): 3-+.
Übersichtsarbeiten
Testing of IgG and IgG(4) to foods is not recommended
Kleine-Tebbe, J; Reese, I; Ballmer-Weber, BK; Beyer, K; Erdmann, S; Fuchs, T; Henzgen, M; Heratizadeh, A; Huttegger, I; Jager, L; Jappe, U; Lepp, U; Niggemann, B; Raithel, M; Saloga, J; Szepfalusi, Z; Zuberbier, T; Werfel, T; Vieths, S; Worm, M
LABORATORIUMSMEDIZIN. 2010; 34(4): 169-170.
Editorials
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder
Leen, WG; Klepper, J; Verbeek, MM; Leferink, M; Hofste, T; van Engelen, BG; Wevers, RA; Arthur, T; Bahi-Buisson, N; Ballhausen, D; Bekhof, J; van Bogaert, P; Carrilho, I; Chabrol, B; Champion, MP; Coldwell, J; Clayton, P; Donner, E; Evangeliou, A; Ebinger, F; Farrell, K; Forsyth, RJ; de Goede, CGEL; Gross, S; Grunewald, S; Holthausen, H; Jayawant, S; Lachlan, K; Laugel, V; Leppig, K; Lim, MJ; Mancini, G; Della Marina, A; Martorell, L; McMenamin, J; Meuwissen, MEC; Mundy, H; Nilsson, NO; Panzer, A; Poll-The, BT; Rauscher, C; Rouselle, CMR; Sandvig, I; Scheffner, T; Sheridan, E; Simpson, N; Sykora, P; Tomlinson, R; Trounce, J; Webb, D; Weschke, B; Scheffer, H; Willemsen, MA
BRAIN. 2010; 133: 655-670.
Originalarbeiten (Zeitschrift)
Treatment options in IgE-mediated food allergy
Lepp, U; Ballmer-Weber, B; Beyer, K; Erdmann, S; Fuchs, T; Henzgen, M; Heratizadeh, A; Huttegger, I; Jappe, U; Kleine-Tebbe, J; Niggemann, B; Raithel, M; Reese, I; Saloga, J; Schafer, C; Szepfalusi, Z; Vieths, S; Werfel, T; Zuberbier, T; Worm, M
ALLERGOLOGIE. 2010; 33(8): 347-356.
Originalarbeiten (Zeitschrift)
Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F-1 epsilon subunit
Mayr, JA; Havlickova, V; Zimmermann, F; Magler, I; Kaplanova, V; Jesina, P; Pecinova, A; Nuskova, H; Koch, J; Sperl, W; Houstek, J
HUM MOL GENET. 2010; 19(17): 3430-3439.
Originalarbeiten (Zeitschrift)
Outcome of severe unilateral cerebellar hypoplasia
Poretti, A; Limperopoulos, C; Roulet-Perez, E; Wolf, NI; Rauscher, C; Prayer, D; Muller, A; Weissert, M; Kotzaeridou, U; Du Plessis, AJ; Huisman, TAGM; Boltshauser, E
DEV MED CHILD NEUROL. 2010; 52(8): 718-724.
Originalarbeiten (Zeitschrift)
The galanin system in cancer.
Rauch, I; Kofler, B;
EXS. 2010; 102: 223-241.
Übersichtsarbeiten
Regarding "The anatomy of the small saphenous vein: Fascial and neural relations, saphenofemoral junction, and valves" Reply
Schweighofer, G; Muhlberger, D; Brenner, E
J VASC SURG. 2010; 52(5): 1429-1429.
Author reply
Alarin stimulates food intake in male rats and LH secretion in castrated male rats
Van Der Kolk, N; Madison, FN; Mohr, M; Eberhard, N; Kofler, B; Fraley, GS
NEUROPEPTIDES. 2010; 44(4): 333-340.
Originalarbeiten (Zeitschrift)
Danger of low pressure alarm failure in preterm infants on continuous positive airway pressure.
Wald, M; Jeitler, V; Pollak, A; Kirchner, L;
Eur J Pediatr. 2010; 169(5):585-589
Originalarbeiten (Zeitschrift)
Gesundheitskommunikation in der Adipositasprävention und -therapie
Weghuber, D; Ardelt-Gattinger, E; Dämon, S; Miller, K; Hattinger, J; Ring-Dimitriou, S; Sperl, W;
Journal für Ernährungsmedizin. 2010; 12 (18): 1-8.
Originalarbeiten (Zeitschrift)

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

Is mitochondrial genome chicken or egg of carcinogenesis?
Czarnecka, A; Klemba, A; Katarzyna, P; Tomasz, K; Lubinski, J; Zdrozny, M; Kofler, B; Mossakowska, M; Bartnik, E; Petros, J
FEBS J. 2010; 277: 219-219.
Abstracts (Zeitschrift)
Decrease of aerobic mitochondrial energy metabolism in ganglioneuromas
Feichtinger, RG; Neureiter, D; Mayr, JA; Zimmermann, F; Jones, N; Sperl, W; Kofler, B
MITOCHONDRION. 2010; 10(2): 202-202.
Abstracts (Zeitschrift)
T8993G MUTATION IN ATP-SYNTHASE SUBUNIT 6 ASSOCIATED WITH SEVERE HYPERTROPHIC CARDIOMYOPATHY IN 2 PATIENTS
Freisinger, PJK; Mayr, J; Ahting, U; Kolker, S; Gharavi, B; Sperl, W; Rolinski, B
J INHERIT METAB DIS. 2010; 33: S93-S93.
Abstracts (Zeitschrift)
INCREASING MUTATION LOAD IN MUSCLE AFTER 4 YEARS OF KETOGENIC DIET IN A GIRL WITH MELAS MUTATION
Freisinger, PJK; Rolinski, B; Baumeister, FAM; Ahting, U; Sperl, W; Mayr, J
J INHERIT METAB DIS. 2010; 33: S92-S92.
Abstracts (Zeitschrift)
Genetic disorders of mitochondrial ATP
Houstek, J; Kmoch, S; Mayr, JA; Sperl, W; Zeman, J
BBA-BIOENERGETICS. 2010; 1797: 47-48.
Abstracts (Zeitschrift)
NOVEL MITOCHONDRIAL DNA DELETION IN PATIENT WITH DISTINCT PRESENTATION OF PEARSON SYNDROME
Kecman, B; Mayr, J; Djordjevic, M; Sarajlija, A; Stajic, N
J INHERIT METAB DIS. 2010; 33: S91-S91.
Abstracts (Zeitschrift)
DELETION 22Q13 SYNDROME (PHELAN- MCDERMID SYNDROM)
Maxonus, I; Irnberger, E; Rittinger, O
ACTA PAEDIATR. 2010; 99: 50-50.
Abstracts (Zeitschrift)
ATP SYNTHASE DEFICIENCY DUE TO A MUTATION OF SUBUNIT E THE FIRST OF A NUCLEAR ENCODED SUBUNIT
Mayr, JA; Havlickova, V; Zimmermann, F; Magler, I; Kaplanova, V; Jeina, P; Pecinova, A; Nuskova, H; Koch, J; Houtek, J; Sperl, W
J INHERIT METAB DIS. 2010; 33: S89-S89.
Abstracts (Zeitschrift)
Interdisciplinary Quality Assurance Instrument in Surgical and Conservative Intervention
Miller, K; Weghuber, D; Ardelt-Gattinger, E; Meindl, M; Ring-Dimitriou, S
OBES SURG. 2010; 20(8): 1020-1020.
Abstracts (Zeitschrift)
Mitochondrial haplogroups and control region polymorphisms are not associated with prostate cancer in Middle European caucasians
Mueller, EE; Eder, W; Mayr, JA; Paulweber, B; Sperl, W; Horninger, W; Klocker, H; Kofler, B
MITOCHONDRION. 2010; 10(2): 201-202.
Abstracts (Zeitschrift)
First clinical experiences on the renal replacement therapy with the Prismaflex HF 20 Set of four infants and toddlers.
Rodl, S; Marschitz, I; Mache, CJ; Kostenberger, M; Madler, G; Rehak, T; Zobel, G
KLIN PADIATR. 2010; 222: S108-S108.
Abstracts (Zeitschrift)
Hemodiafiltration in infants with end-stage renal failure and complications of peritoneal dialysis.
Rodl, S; Marschitz, I; Rehak, T; Mache, CJ; Kostenberger, M; Madler, G; Zobel, G
KLIN PADIATR. 2010; 222: S14-S14.
Abstracts (Zeitschrift)
12 years experience with extracorporeal therapies in a multidisciplinary pediatric intensive care unit.
Roedl, S; Rehak, T; Marschitz, I; Zobel, G
KLIN PADIATR. 2010; 222: S108-S108.
Abstracts (Zeitschrift)
Development of Intensive Neuromonitoring of a pediatric Intensive Care Unit in the last 10 Years
Roedl, S; Rehak, T; Marschitz, I; Zobel, G
KLIN PADIATR. 2010; 222: S53-S53.
Abstracts (Zeitschrift)
INTERLABORATORY COMPARISON OF RESPIRATORY CHAIN ACTIVITY MEASUREMENT
Rolinski, B; Mayr, H; Ahting, U; Gempel, K; Makowski, C; Freisinger, P; Sperl, W
J INHERIT METAB DIS. 2010; 33: S90-S90.
Abstracts (Zeitschrift)
Prevalence of cardiovascular risk factors in children and adolescents with diabetes type 1 in Austria.
Schweiger, C; Schober, E; Rami, B; Waldhor, T; Horak, E; Borkenstein, M; Frohlich-Reiterer, E; Schwarz, I
WIEN KLIN WOCHENSCHR. 2010; 122: S20-S20.
Abstracts (Zeitschrift)
Compound heterozygosity for mutations in TMEM70
Sperl, W; Bodamer, O; Moslinger, D; Koch, J; Tesarova, M; Zeman, J; Houstek, J; Kmoch, S; Mayr, JA
MITOCHONDRION. 2010; 10(2): 241-241.
Abstracts (Zeitschrift)
DIFFICULTY IN THE DIAGNOSIS OF A GIRL WITH PYRUVATE DEHYDROGENASE DEFICIENCY AND A LARGE X-CHROMOSOMAL DELETION
Sperl, W; Koch, J; Rauscher, C; Zimmermann, F; Zschocke, J; Fauth, C; Mayr, JA
J INHERIT METAB DIS. 2010; 33: S89-S89.
Abstracts (Zeitschrift)
Difficulty in the diagnosis of X-linked PDHC deficiency due to a large deletion affecting the PDHA1 gene
Sperl, W; Koch, J; Rauscher, C; Zschocke, J; Fauth, C; Mayr, JA
MITOCHONDRION. 2010; 10(2): 241-241.
Abstracts (Zeitschrift)
Upregulation of galanin and substance P RNA in organs of septic mice
Wintersteller, S; Rauch, I; Hahnhaussen, J; Kollarz, G; Holzmeister, S; Fernandes, ES; Brain, SD; Sperl, W; Emmanuel, K; Kofler, B
J MOL NEUROSCI. 2010; 42(3): 314-314.
Abstracts (Zeitschrift)
Atypical teratoid/rhabdoid tumor (ATRT) and its incidence: a population-based study by the Austrian Brain Tumor Registry
Woehrer, A; Slavc, I; Waldhoer, T; Heinzl, H; Zielonke, N; Czech, T; Azizi, AA; Benesch, M; Scarpatetti, M; Ebetsberger, G; Weis, S; Jones, N; Klein-Franke, A; Sterlacci, W; Jauk, B; Kiefer, A; Mueller, G; Gruber-Moesenbacher, U; Reiner-Concin, A; Feichtinger, H; Hainfellner, JA; Haberler, C
BRAIN PATHOL. 2010; 20: 71-72.
Abstracts (Zeitschrift)
EPIDEMIOLOGY OF MALIGNANT, HIGH-GRADE PEDIATRIC CNS TUMORS: A POPULATION-BASED STUDY BY THE AUSTRIAN BRAIN TUMOR REGISTRY, 1996-2006
Woehrer, A; Slave, I; Waldhoer, T; Heinzl, H; Zielonke, N; Czech, T; Azizi, AA; Benesch, M; Scarpatetti, M; Ebetsberger, G; Weis, S; Jones, N; Klein-Franke, A; Sterlacci, W; Jauk, B; Kiefer, A; Mueller, G; Gruber-Moesenbacher, U; Reiner-Concin, A; Feichtinger, H; Hainfellner, JA; Haberler, C
NEURO-ONCOLOGY. 2010; 12(6): II45-II45.
Abstracts (Zeitschrift)
Respiratory chain complex I deficiency in oncocytic tumours
Zimmermann, FA; Mayr, JA; Feichtinger, R; Kogler, C; Ratschek, M; Rusmir, H; Sargsyan, K; Sperl, W; Kofler, B
MITOCHONDRION. 2010; 10(2): 201-201.
Abstracts (Zeitschrift)

Originalbeiträge in Sammelwerk (Buchbeitrag)

Galanin Family of Peptides in Skin Function
Bauer, JW; Lang, R; Jakab, M; Kofler, B;
In: Hökfelt, T. (Ed) editors(s). Galanin. 102: Basel: Springer; p. 51-60. (ISBN: 978-3-0346-0227-3)

2009

Beiträge in Fachzeitschriften

A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy.
Acham-Roschitz, B; Plecko, B; Lindbichler, F; Bittner, R; Mache, CJ; Sperl, W; Mayr, JA;
MOL GENET METAB. 2009; 98(3): 300-304.
Originalarbeiten (Zeitschrift)
Magnesium sulphate for women at risk for preterm birth of neuroprotection of the fetus
Bodamer, O
MONATSSCHR KINDERH. 2009; 157(7): 639-639.
Editorials
Type-1 diabetes in children in Europe. Rising incidence and lack of prevention
Bodamer, O
MONATSSCHR KINDERH. 2009; 157(10): 942-942.
Editorials
Newborn screening in the 21st century
Bodamer, O; Kerbl, R
MONATSSCHR KINDERH. 2009; 157(12): 1208-1208.
Editorials
Creatine Metabolism in Combined Methylmalonic Aciduria and Homocystinuria Disease Revisited Reply
Bodamer, OA; Scaglia, F
ANN NEUROL. 2009; 65(4): 482-483.
Letter
The protective effect of farm animal exposure on childhood allergy is modified by NPSR1 polymorphisms.
Bruce, S; Nyberg, F; Melén, E; James, A; Pulkkinen, V; Orsmark-Pietras, C; Bergström, A; Dahlén, B; Wickman, M; von Mutius, E; Doekes, G; Lauener, R; Riedler, J; Eder, W; van Hage, M; Pershagen, G; Scheynius, A; Kere, J;
J MED GENET. 2009; 46(3): 159-167.
Originalarbeiten (Zeitschrift)
Successful implantation of a cochlear implant in a four-yr-old boy after kidney transplantation: a case report.
Cortina, G; Wiesmayr, S; Jungraithmayr, T; Roussinow, D; Nekahm-Heis, D; Zorowka, P; Zimmerhackl, LB;
Pediatr Transplant. 2009; 13(7): 933-935.
Fallberichte
Common mitochondrial polymorphisms as risk factor for endometrial cancer.
Czarnecka, AM; Klemba, A; Semczuk, A; Plak, K; Marzec, B; Krawczyk, T; Kofler, B; Golik, P; Bartnik, E;
Int Arch Med. 2009; 2(1): 33
Originalarbeiten (Zeitschrift)
Epilepsy in patients with propionic acidemia.
Haberlandt, E; Canestrini, C; Brunner-Krainz, M; Möslinger, D; Mussner, K; Plecko, B; Scholl-Bürgi, S; Sperl, W; Rostásy, K; Karall, D;
NEUROPEDIATRICS. 2009; 40(3): 120-125.
Originalarbeiten (Zeitschrift)
Must screening examinations for retinopathy of prematurity necessarily be painful?
Kirchner, L; Jeitler, V; Pollak, A; Müllner-Eidenböck, A; Weinzettel, R; Kraschl, R; Waldhör, T; Wald, M;
Retina. 2009; 29(5):586-591
Originalarbeiten (Zeitschrift)
Long hospitalization is the most important risk factor for early weaning from breast milk in premature babies.
Kirchner, L; Jeitler, V; Waldhör, T; Pollak, A; Wald, M;
Acta Paediatr. 2009; 98(6):981-984
Originalarbeiten (Zeitschrift)
In vitro diagnostics and molecular basis of IgE-mediated food allergies
Kleine-Tebbe, J; Ballmer-Weber, B; Beyer, K; Erdmann, S; Fuchs, T; Henzgen, M; Huttegger, I; Jappe, U; Jager, L; Lepp, U; Niggemann, B; Raithel, M; Reese, I; Saloga, J; Szepfalusi, Z; Vieths, S; Worm, M; Zuberbier, T; Werfel, T
ALLERGOLOGIE. 2009; 32(5): 177-194.
Übersichtsarbeiten
No recommendation for IgG and IgG4 identification against food
Kleine-Tebbe, J; Reese, I; Ballmer-Weber, BK; Beyer, K; Erdmann, S; Fuchs, T; Henzgen, M; Heratizadeh, A; Huttegger, I; Jager, L; Jappe, U; Lepp, U; Niggemann, B; Raithel, M; Saloga, J; Szepfalusi, Z; Zuberbier, T; Werfel, T; Vieths, S; Worm, M
ALLERGOLOGIE. 2009; 32(8): 320-321.
Originalarbeiten (Zeitschrift)
Die spezifische Immuntherapie (Hyposensibilisierung) bei IgE-vermittelten allergischen Erkrankungen
Klein-Tebbe, J; Bufe, A; Ebner, C; Eigenmann, P; Friedrichs, F; Fuchs, T; Huttegger , I; Jung, K; Klimek, L; Kopp, M; Laessig, W; Merk, H; Niggemann, B; Rabe, U; Saloga, J; Schmid-Grendelmeier, P; Sitter, H; Virchow, JC; Wagenmann, M; Wedi, B; Worm, M;
Allergo Journal. 2009; 18: 508-537.
Übersichtsarbeiten
Major depression in adolescent children consecutively diagnosed with mitochondrial disorder.
Koene, S; Kozicz, TL; Rodenburg, RJ; Verhaak, CM; de Vries, MC; Wortmann, S; van de Heuvel, L; Smeitink, JA; Morava, E;
J Affect Disord. 2009; 114(1-3):327-332
Originalarbeiten (Zeitschrift)
Mitochondrial DNA haplogroup T is associated with coronary artery disease and diabetic retinopathy: a case control study.
Kofler, B; Mueller, EE; Eder, W; Stanger, O; Maier, R; Weger, M; Haas, A; Winker, R; Schmut, O; Paulweber, B; Iglseder, B; Renner, W; Wiesbauer, M; Aigner, I; Santic, D; Zimmermann, FA; Mayr, JA; Sperl, W;
BMC MED GENET. 2009; 10: 35
Originalarbeiten (Zeitschrift)
Mitochondrial haplogroups and control region polymorphisms are not associated with prostate cancer in Middle European Caucasians.
Mueller, EE; Eder, W; Mayr, JA; Paulweber, B; Sperl, W; Horninger, W; Klocker, H; Kofler, B;
PLOS ONE. 2009; 4(7): e6370
Originalarbeiten (Zeitschrift)
Tumor Stabilization Under Treatment With Imatinib in Progressive Hypothalamic-Chiasmatic Glioma
Peyrl, A; Azizi, A; Czech, T; Gruber-Olipitz, M; Jones, N; Haberler, C; Prayer, D; Autzinger, E; Slavc, I
PEDIATR BLOOD CANCER. 2009; 52(4): 476-480.
Originalarbeiten (Zeitschrift)
PDH E1β deficiency with novel mutations in two patients with Leigh syndrome.
Quintana, E; Mayr, JA; García Silva, MT; Font, A; Tortoledo, MA; Moliner, S; Ozaez, L; Lluch, M; Cabello, A; Ricoy, JR; Koch, J; Ribes, A; Sperl, W; Briones, P;
J Inherit Metab Dis. 2009; 32 Suppl 1: S339-S343.
Fallberichte
Transcobalamin II deficiency at birth.
Ratschmann, R; Minkov, M; Kis, A; Hung, C; Rupar, T; Muhl, A; Fowler, B; Nexo, E; Bodamer, OA
MOL GENET METAB. 2009; 98(3): 285-288.
Fallberichte
Anti-Candida activity of alpha-melanocyte-stimulating hormone (alpha-MSH) peptides
Rauch, I; Holzmeister, S; Kofler, B
J LEUKOCYTE BIOL. 2009; 85(3): 371-372.
Letter
Pontine tegmental cap dysplasia: the severe end of the clinical spectrum.
Rauscher, C; Poretti, A; Neuhann, TM; Forstner, R; Hahn, G; Koch, J; Tinschert, S; Boltshauser, E;
NEUROPEDIATRICS. 2009; 40(1): 43-46.
Fallberichte
Danon disease: case report and detection of new mutation.
Regelsberger, G; Höftberger, R; Pickl, WF; Zlabinger, GJ; Körmöczi, U; Salzer-Muhar, U; Luckner, D; Bodamer, OA; Mayr, JA; Muss, WH; Budka, H; Bernheimer, H;
J Inherit Metab Dis. 2009; 32 Suppl 1: S115-S122.
Originalarbeiten (Zeitschrift)
Evidence that the modulatory effect of galanin on inflammatory edema formation is mediated by the galanin receptor 3 in the murine microvasculature.
Schmidhuber, SM; Rauch, I; Kofler, B; Brain, SD;
J MOL NEUROSCI. 2009; 37(2): 177-181.
Originalarbeiten (Zeitschrift)
[Allergen-specific Immunotherapy for children and adolescents - a review on available products in Austria].
Szépfalusi, Z; Emminger, W; Eitelberger, F; Götz, M; Grillenberger, A; Horak, E; Huttegger, I; Koller, D; Litscher, H; Schmitzberger, R; Varga, EM; Riedler, J;
Wien Klin Wochenschr. 2009; 121(19-20):648-660
Übersichtsarbeiten
Substrate deprivation therapy in juvenile Sandhoff disease.
Wortmann, SB; Lefeber, DJ; Dekomien, G; Willemsen, MA; Wevers, RA; Morava, E;
J Inherit Metab Dis. 2009; 32 Suppl 1:S307-S311
Originalarbeiten (Zeitschrift)
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.
Wortmann, SB; Rodenburg, RJ; Jonckheere, A; de Vries, MC; Huizing, M; Heldt, K; van den Heuvel, LP; Wendel, U; Kluijtmans, LA; Engelke, UF; Wevers, RA; Smeitink, JA; Morava, E;
Brain. 2009; 132(Pt 1):13-46
Originalarbeiten (Zeitschrift)
Mitochondrial energy production correlates with the age-related BMI.
Wortmann, SB; Zweers-van Essen, H; Rodenburg, RJ; van den Heuvel, LP; de Vries, MC; Rasmussen-Conrad, E; Smeitink, JA; Morava, E;
Pediatr Res. 2009; 65(1):103-108
Originalarbeiten (Zeitschrift)
Lack of complex I is associated with oncocytic thyroid tumours.
Zimmermann, FA; Mayr, JA; Neureiter, D; Feichtinger, R; Alinger, B; Jones, ND; Eder, W; Sperl, W; Kofler, B;
BRIT J CANCER. 2009; 100(9): 1434-1437.
Originalarbeiten (Zeitschrift)

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

IMPROVED MOLECULAR DIAGNOSTICS FOR MITOCHONDRIAL COMPLEX I DEFICIENCY
Freisinger, P; Biste, M; Madignier, F; Rolinski, B; Mayr, J; Tesarova, R; Horvath, R; Sperl, W; Meitinger, T; Prokisch, H
MOL GENET METAB. 2009; 98(1-2): 97-97.
Abstracts (Zeitschrift)
A NEW MUTATION IN SUCLA2 IN TWO ARABIC SIBLINGS
Freisinger, PJK; AlJishi, E; Hartmann, K; Rolinski, B; Ahting, U; Sperl, W; Mayr, J
MOL GENET METAB. 2009; 98(1-2): 99-99.
Abstracts (Zeitschrift)
WOLCOTT-RALLISON-SYNDROME - A MITOCHONDRIAL DISORDER?
Freisinger, PJK; Kunkel, J; Knoppke, B; Segerer, H; Melter, M; Mayr, J
MOL GENET METAB. 2009; 98(1-2): 98-98.
Abstracts (Zeitschrift)
PYRUVATE-DEHYDROGENASE-COMPLEX (PDHC)-DEFICIENCY DUE TO A NEW MUTATION IN DIHYDROLIPOAMIDE ACETLYTRANSFERASE(E2)
Freisinger, PJK; Mayr, J; Makowski, C; Hartmann, K; Rolinski, B; Strassburg, H; Sperl, W
MOL GENET METAB. 2009; 98(1-2): 99-99.
Abstracts (Zeitschrift)
NEW MUTATION IN SDHA GENE IN RESPIRATORY CHAIN COMPLEX II DEFICIENCY
Hartmann, K; Freisinger, PJK; Rolinski, B; Haftl, L; Sperl, W; Mayr, J
MOL GENET METAB. 2009; 98(1-2): 98-99.
Abstracts (Zeitschrift)
LOCALISATION AND FUNCTION OF THE NOVEL NEUROPEPTIDE ALARIN IN THE CENTRAL NERVOUS SYSTEM
Kofler, B; Eberhard, N; Van Der Kolk, N; Madison, FN; Holub, BS; Wagner, A; Bauer, HC; Fraley, GS
NEUROPEPTIDES. 2009; 43(2): 158-158.
Abstracts (Zeitschrift)
Male Infertility due to 45,X[90]/46,X,nfY[10]: clinical and cytogenetic findings
Kronberger, G; Rittinger, O
CHROMOSOME RES. 2009; 17: 35-35.
Abstracts (Zeitschrift)
MITONET-GERMAN NETWORK FOR MITOCHONDRIAL DISORDERS
Prokisch, H; Freisinger, PJK; Wittig, I; Schols, L; Schuelke, M; Kunz, W; Abicht, A; Obermeier-Kusser, B; Meitinger, T; Sperl, W; Klospstock, T
MOL GENET METAB. 2009; 98(1-2): 97-97.
Abstracts (Zeitschrift)
UPREGULATION OF GALANIN AND SUBSTANCE P RNA IN ORGANS OF SEPTIC MICE
Rauch, I; Wintersteller, S; Hahnhaussen, J; Kollarz, G; Holzmeister, S; Emanuel, K; Sperl, W; Kofler, B
NEUROPEPTIDES. 2009; 43(5): 419-419.
Abstracts (Zeitschrift)
An unusual large 15q deletion due to an unbalanced translocation t(15;19)(q14;q13.4) resulting in Prader Willi syndrome
Rittinger, O; Kronberger, G
CHROMOSOME RES. 2009; 17: 38-38.
Abstracts (Zeitschrift)
RESPIRATORY COMPLEX III DEFICIENCY WITH A NEW MISSENSE, MUTATION IN MITOCHONDRIAL CYTB
Rolinski, B; Ahting, U; Hartmann, K; Mayr, J; Sperl, W; Freisinger, P
MOL GENET METAB. 2009; 98(1-2): 99-99.
Abstracts (Zeitschrift)
Deficiency of respiratory chain complex I in oncocytic tumors
Zimmermann, F; Mayr, JA; Feichtinger, R; Kogler, C; Ratschek, M; Husic, R; Sargsyan, K; Sperl, W; Kofler, B
FEBS J. 2009; 276: 396-397.
Abstracts (Zeitschrift)

Originalbeiträge in Sammelwerk (Buchbeitrag)

Mitochondriale Erkrankungen (Mitochondriopathien).
Sperl, W;
In: Ledochowski, M (Ed.) editors(s). Klinische Ernährungsmedizin.. p. 851-863.

2008

Beiträge in Fachzeitschriften

Galanin family of peptides in skin function.
Bauer, JW; Lang, R; Jakab, M; Kofler, B;
CELL MOL LIFE SCI. 2008; 65(12): 1820-1825.
Übersichtsarbeiten
Activation of chloride secretion via proteinase-activated receptor 2 in a human eccrine sweat gland cell line--NCL-SG3.
Bovell, DL; Santic, R; Kofler, B; Hermann, A; Wilson, D; Corbett, A; Lang, R;
EXP DERMATOL. 2008; 17(6): 505-511.
Originalarbeiten (Zeitschrift)
Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F(I)F(o) ATP synthase deficiency
Cizkova, A; Stranecky, V; Ivanek, R; Hartmannova, H; Noskova, L; Piherova, L; Tesarova, M; Hansikova, H; Honzik, T; Zeman, J; Divina, P; Potocka, A; Paul, J; Sperl, W; Mayr, JA; Seneca, S; Houstek, J; Kmoch, S
BMC GENOMICS. 2008; 9: 38
Originalarbeiten (Zeitschrift)
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy
Cizkova, A; Stranecky, V; Mayr, JA; Tesarova, M; Havlickova, V; Paul, J; Ivanek, R; Kuss, AW; Hansikova, H; Kaplanova, V; Vrbacky, M; Hartmannova, H; Noskova, L; Honzik, T; Drahota, Z; Magner, M; Hejzlarova, K; Sperl, W; Zeman, J; Houstek, J; Kmoch, S
NAT GENET. 2008; 40(11): 1288-1290.
Kurzberichte/Notes
Loss of complex I due to mitochondrial DNA mutations in renal oncocytoma.
Mayr, JA; Meierhofer, D; Zimmermann, F; Feichtinger, R; Kögler, C; Ratschek, M; Schmeller, N; Sperl, W; Kofler, B;
CLIN CANCER RES. 2008; 14(8): 2270-2275.
Originalarbeiten (Zeitschrift)
Long-term follow-up of patients with congenital hyperinsulinism in Austria
Mercimek-Mahmutoglu, S; Rami, B; Feucht, M; Herle, M; Rittinger, O; Stoeckler-Ipsiroglu, S; Schober, E
J PEDIATR ENDOCR MET. 2008; 21(6): 523-532.
Originalarbeiten (Zeitschrift)
Neonatal characteristics of twins and triplets admitted to the neonatal intensive care unit depending on the mode of conception
Moeser, C; Jager, T; Weisser, C; Minnich, B; Staudach, A; Steiner, H
GEBURTSH FRAUENHEILK. 2008; 68(2): 165-171.
Originalarbeiten (Zeitschrift)
Heparin cofactor II-thrombin complex: a biomarker of MPS disease.
Randall, DR; Colobong, KE; Hemmelgarn, H; Sinclair, GB; Hetty, E; Thomas, A; Bodamer, OA; Volkmar, B; Fernhoff, PM; Casey, R; Chan, AK; Mitchell, G; Stockler, S; Melancon, S; Rupar, T; Clarke, LA
MOL GENET METAB. 2008; 94(4): 45-61.
Originalarbeiten (Zeitschrift)
MMP-9 haplotypes and carotid artery atherosclerosis: an association study introducing a novel multicolour multiplex RealTime PCR protocol.
Rauch, I; Iglseder, B; Paulweber, B; Ladurner, G; Strasser, P;
Eur J Clin Invest. 2008; 38(1):24-33
Originalarbeiten (Zeitschrift)
Caffeine monitoring in infants: comparison of automated (VITROS 5, 1 FS) chemistry system versus HPLC analysis.
Reiter-Reisacher, RB; Wald, M; Weninger, M; Herkner, KR;
Clin Lab. 2008; 54(3-4):8-94
Originalarbeiten (Zeitschrift)
The changing phenotype in diploid/triploid mosaicism may mimic genetic syndromes with aberrant genomic imprinting: Follow up in a 14-year-old girl
Rittinger, O; Kronberger, G; Pfeifenberger, A; Kotzot, D; Fauth, C
EUR J MED GENET. 2008; 51(6): 573-579.
Originalarbeiten (Zeitschrift)
Targeted disruption of the galanin gene attenuates inflammatory responses in murine skin.
Schmidhuber, SM; Starr, A; Wynick, D; Kofler, B; Brain, SD;
J MOL NEUROSCI. 2008; 34(2): 149-155.
Originalarbeiten (Zeitschrift)
A new modified Seldinger technique for 2- and 3-French peripherally inserted central venous catheters.
Wald, M; Happel, CM; Kirchner, L; Jeitler, V; Sasse, M; Wessel, A;
Eur J Pediatr. 2008; 167(11):1327-1329
Originalarbeiten (Zeitschrift)
Analysis of the spatial distribution of infant mortality by cause of death in Austria in 1984 to 2006.
Waldhoer, T; Wald, M; Heinzl, H;
Int J Health Geogr. 2008; 7:21
Originalarbeiten (Zeitschrift)
Effect of 3-month treatment of children and adolescents with familial and polygenic hypercholesterolaemia with a soya-substituted diet.
Weghuber, D; Widhalm, K;
Br J Nutr. 2008; 99(2):281-286
Originalarbeiten (Zeitschrift)
Prenatal diagnosis of cerebral lesions in Tuberous sclerosis complex (TSC). Case report and review of the literature.
Wortmann, SB; Reimer, A; Creemers, JW; Mullaart, RA;
Eur J Paediatr Neurol. 2008; 12(2):123-126
Originalarbeiten (Zeitschrift)
Myfortic in pediatric transplantation.
Zimmerhackl, LB; Jungraithmayr, T; Wiesmayr, S; Filler, G;
Pediatr Transplant. 2008; 12(6):614-616
Editorials

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

A new mutation in PDHA1 in a girl with severe clinical phenotype but normal activity of pyruvate-defhydrogenase complex in muscle
Freisinger, P; Mayr, J; Hartmann, K; Rolinski, B; Ahting, U; Woessner, R; Sperl, W
J INHERIT METAB DIS. 2008; 31: 64-64.
Abstracts (Zeitschrift)
High throughput mutation screening in patients with isolated respiratory chain complex I deficiency
Freisinger, P; Taverna, M; Madignier, F; Ahting, U; Rolinski, B; Mayr, J; Sperl, W; Tesarova, M; Meitinger, T; Prokisch, H
J INHERIT METAB DIS. 2008; 31: 61-61.
Abstracts (Zeitschrift)
Tissue-specific pyruvate dehydrogenase deficiency in a boy with novel mutations in the E1 beta subunit
Mayr, JA; Koch, J; Rauscher, C; Bernert, G; Sperl, W
J INHERIT METAB DIS. 2008; 31: 54-54.
Abstracts (Zeitschrift)
Antifungal activity of galanin- message-associated peptide and neuropeptide Y against different non-albicans Candida strains
Rauch, I; Holzmeister, S; Hell, M; Sperl, W; Kofler, B
EXP DERMATOL. 2008; 17(7): 626-626.
Abstracts (Zeitschrift)
Antifungal activity of galanin-message-associated peptide and neuropeptide y against different non-albicans candida strains
Rauch, I; Holzmeister, S; Hell, M; Sperl, W; Kofler, B
MYCOSES. 2008; 51(5): 436-436.
Abstracts (Zeitschrift)
Galanin-message-associated peptide suppresses growth and budded-to-hyphal form transition of the human pathogenic fungus Candida albicans
Rauch, I; Lundstrom, L; Hell, M; Sperl, W; Kofler, B
NEUROPEPTIDES. 2008; 42(4): 487-488.
Abstracts (Zeitschrift)
Defects in atp synthesis are associated with hypertrophic cardiomyopathy
Sped, W; Koch, J; Freisinger, P; Mayr, JA
J INHERIT METAB DIS. 2008; 31: 53-53.
Abstracts (Zeitschrift)
Complex I deficiency due to a NDUFAF2 defect in a boy with acute fulminant course of Leigh disease and typical brainstem lesions
Sped, W; Prokisch, H; Boltshauser, E; Koch, J; Rauscher, C; Radauer, W; Forstner, R; Freisinger, P; Rolinski, B; Rodenburg, RJT; Mayr, JA
J INHERIT METAB DIS. 2008; 31: 53-53.
Abstracts (Zeitschrift)

2007

Beiträge in Fachzeitschriften

Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia.
Baumgartner, D; Scholl-Bürgi, S; Sass, JO; Sperl, W; Schweigmann, U; Stein, JI; Karall, D;
J PEDIATR. 2007; 150(2): 192-197.
Originalarbeiten (Zeitschrift)
Tick-borne encephalitis in a 17-day-old newborn resulting in severe neurologic impairment.
Jones, N; Sperl, W; Koch, J; Holzmann, H; Radauer, W;
PEDIATR INFECT DIS J. 2007; 26(2): 185-186.
Fallberichte
Amnionitis with Ureaplasma urealyticum or other microbes leads to increased morbidity and prolonged hospitalization in very low birth weight infants.
Kirchner, L; Helmer, H; Heinze, G; Wald, M; Brunbauer, M; Weninger, M; Zaknun, D;
Eur J Obstet Gynecol Reprod Biol. 2007; 134(1):44-50
Originalarbeiten (Zeitschrift)
The galanin peptide family: Receptor phan-nacology, pleiotropic biological actions, and implications in health and disease
Lang, R; Gundlach, AL; Kofler, B
PHARMACOL THERAPEUT. 2007; 115(2): 177-207.
Übersichtsarbeiten
Mitochondrial phosphate-carrier deficiency: A novel disorder of oxidative phosphorylation
Mayr, JA; Merkel, O; Kohlwein, SD; Gebhardt, BR; Bohles, H; Fotschl, U; Koch, J; Jaksch, M; Lochmuller, H; Horvath, R; Freisinger, P; Sperl, W
AM J HUM GENET. 2007; 80(3): 478-484.
Originalarbeiten (Zeitschrift)
Galanin message-associated peptide suppresses growth and the budded-to-hyphal-form transition of Candida albicans.
Rauch, I; Lundström, L; Hell, M; Sperl, W; Kofler, B;
Antimicrob Agents Chemother. 2007; 51(11):4167-4170
Originalarbeiten (Zeitschrift)
Emergency treatment of anaphylactic reactions
Ring, J; Brockow, K; Duda, D; Eschenhagen, T; Fuchs, T; Huttegger, I; Kapp, A; Klimek, L; Muller, U; Niggemann, B; Pfaar, O; Przybilla, B; Rebien, W; Rietschel, E; Rueff, F; Schnadt, S; Tryba, M; Worm, M; Sitter, H; Schultze-Werninghaus, G
ALLERGOLOGIE. 2007; 30(12): 469-486.
Übersichtsarbeiten
Alarin is a vasoactive peptide
Santic, R; Schmidhuber, SM; Lang, R; Rauch, I; Voglas, E; Eberhard, N; Bauer, JW; Brain, SD; Kofler, B
P NATL ACAD SCI USA. 2007; 104(24): 10217-10222.
Originalarbeiten (Zeitschrift)
Galanin-like peptides exert potent vasoactive functions in vivo.
Schmidhuber, SM; Santic, R; Tam, CW; Bauer, JW; Kofler, B; Brain, SD;
J INVEST DERMATOL. 2007; 127(3): 716-721.
Originalarbeiten (Zeitschrift)
Ex-Utero Intrapartum Treatment (EXIT) in a giant case of Congenital Cystic Adenomatoid Malformation (CCAM) of the lung.
Steiner, H; Boemers, T; Forstner, R; Ofner, S; Lederer, A; Ruecker, J;
ULTRASCHALL MED. 2007; 28(6): 626-628.
Fallberichte
Group milleri streptococci: significant pathogens in solid organ recipients.
Stelzmueller, I; Berger, N; Wiesmayr, S; Eller, M; Tabarelli, W; Fille, M; Margreiter, R; Bonatti, H;
Transpl Int. 2007; 20(1):51-56
Originalarbeiten (Zeitschrift)
Clostridium difficile colitis in solid organ transplantation--a single-center experience.
Stelzmueller, I; Goegele, H; Biebl, M; Wiesmayr, S; Berger, N; Tabarelli, W; Ruttmann, E; Albright, J; Margreiter, R; Fille, M; Bonatti, H;
Dig Dis Sci. 2007; 52(11):3231-3236
Originalarbeiten (Zeitschrift)
Enterocolitis due to simultaneous infection with rotavirus and Clostridium difficile in adult and pediatric solid organ transplantation.
Stelzmueller, I; Wiesmayr, S; Eller, M; Fille, M; Lass-Floerl, C; Weiss, G; Hengster, P; Margreiter, R; Bonatti, H;
J Gastrointest Surg. 2007; 11(7):911-917
Originalarbeiten (Zeitschrift)
Rotavirus enteritis in solid organ transplant recipients: an underestimated problem?
Stelzmueller, I; Wiesmayr, S; Swenson, BR; Biebl, M; Goegele, H; Margreiter, R; Bonatti, H;
Transpl Infect Dis. 2007; 9(4):281-285
Originalarbeiten (Zeitschrift)
Prevalence of congenital adrenal hyperplasia among sudden infant death in the Czech Republic and Austria.
Strnadová, KA; Votava, F; Lebl, J; Mühl, A; Item, C; Bodamer, OA; Torresani, T; Bouska, I; Waldhauser, F; Sperl, W;
Eur J Pediatr. 2007; 166(1):1-4
Originalarbeiten (Zeitschrift)
Characterization of hepatic and brain metabolism in young adults with glycogen storage disease type 1: a magnetic resonance spectroscopy study.
Weghuber, D; Mandl, M; Krssak, M; Roden, M; Nowotny, P; Brehm, A; Krebs, M; Widhalm, K; Bischof, MG
Am J Physiol Endocrinol Metab. 2007; 293(5):E1378-E1384
Originalarbeiten (Zeitschrift)
Early cerebrovascular disease in a 2-year-old with extreme obesity and complete metabolic syndrome due to feeding of excessively high amounts of energy.
Weghuber, D; Zaknun, D; Nasel, C; Willforth-Ehringer, A; Muller, T; Boriss-Riedl, M; Widhalm, K
Eur J Pediatr. 2007; 166(1):37-41
Originalarbeiten (Zeitschrift)
Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisited.
Wortmann, SB; Rodenburg, R; Schwahn, B; Smeitink, JA; Morava, E;
Genet Couns. 2007; 18(1):119-123
Originalarbeiten (Zeitschrift)
Early cardiac involvement in children carrying the A3243G mtDNA mutation.
Wortmann, SB; Rodenburg, RJ; Backx, AP; Schmitt, E; Smeitink, JA; Morava, E;
Acta Paediatr. 2007; 96(3):450-451
Originalarbeiten (Zeitschrift)

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

Hepatopathy: An additional feature of MEGDEL association?
Baric, I; Petkovic, D; Horvath, R; Mayr, J; Sperl, W; Coric, M; Scukanec-Spoljar, M; Bilic, K; Pazanin, L; Rados, M; Vukovic, J; Sarnavka, V; Fumic, K
J INHERIT METAB DIS. 2007; 30: 81-81.
Abstracts (Zeitschrift)
Immunohistochemical distribution of the novel peptide alarin in the adult rat brain
Eberhard, N; Schmidhuber, SM; Rauch, I; Sperk, G; Kofler, B
FEBS J. 2007; 274: 274-274.
Abstracts (Zeitschrift)
Decrease of aerobic mitochondrial energy metabolism in neuroblastoma
Feichtinger, RG; Mayr, JA; Jones, N; Schilling, FH; Kogner, P; Sperl, W; Kofler, B
FEBS J. 2007; 274: 229-229.
Abstracts (Zeitschrift)
Disorders of intergenomic communication: A new group of mitochondriopathies
Freisinger, P; Fuetterer, N; Horvath, R; Prokisch, H; Mayr, JA; Koch, J; Sperl, W
KLIN PADIATR. 2007; 219(2): 118-119.
Abstracts (Zeitschrift)
Diagnosic procedure in suspicion of mitochrondriopathies - an update
Freisinger, P; Prokisch, H; Mayr, H; Sperl, W
KLIN PADIATR. 2007; 219(2): 98-98.
Abstracts (Zeitschrift)
Characterization of hepatic and brain metabolism in young adults with glycogen storage disease type I - a magnetic resonance spectroscopy study
Mandl, M; Weghuber, D; Krssak, M; Roden, M; Nowotny, P; Brehm, A; Krebs, M; Widhalm, K; Bischof, MG
EXP CLIN ENDOCR DIAB. 2007; 115: S91-S91.
Abstracts (Zeitschrift)
The value of functional investigation of intact mitochondria for the diagnosis of mitochondrial disorders
Mayr, JA; Koch, J; Freisinger, P; Sperl, W
J INHERIT METAB DIS. 2007; 30: 72-72.
Abstracts (Zeitschrift)
Causes for and length of stay at a neonatal intensive care station of twins and triplets in connection with the mode of conception
Moeser, C; Jager, V; Staudach, A; Weisser, C; Minnich, B; Steiner, H
GEBURTSH FRAUENHEILK. 2007; 67(5): 546-546.
Abstracts (Zeitschrift)
Galanin-message associated peptide takes part in the innate immune defence against Candida sp.
Rauch, I; Lundstrom, L; Hell, M; Kofler, B
FEBS J. 2007; 274: 372-372.
Abstracts (Zeitschrift)
Paternally inherited subtelomeric 8p deletion: Unpredictability of mental development
Rittinger, O; Kronberger, G; Vlasak, I
CHROMOSOME RES. 2007; 15: 27-27.
Abstracts (Zeitschrift)
Alarin is a novel vasoactive peptide
Santic, R; Lang, R; Schmidhuber, M; Rauch, I; Voglas, E; Eberhard, N; Bauer, JW; Brain, S; Kofler, S
J INVEST DERMATOL. 2007; 127: S88-S88.
Abstracts (Zeitschrift)
Mitochondrial diseases: An overview
Sperl, W
EPILEPSIA. 2007; 48: 22-22.
Abstracts (Zeitschrift)
MRI findings in three patients with PDHC (E1 alpha) deficiency and ketogenic diet
Sperl, W; Koch, J; Rauscher, C; Mayr, JA
J INHERIT METAB DIS. 2007; 30: 76-76.
Abstracts (Zeitschrift)
Diagnostic output of muscle biopsies from 1990 to 2006
Straninger, C; Scholl-Buergi, S; Haberlandt, E; Sperl, W; Mayr, JA; Albrecht, U; Baumgartner, SS; Hager, J; Karall, D
J INHERIT METAB DIS. 2007; 30: 144-144.
Abstracts (Zeitschrift)
Clinical, morphological, biochemical and genetic variability in pure mitochondrial myopathies of childhood onset
Wilichowski, E; Hobbiebrunken, E; Schulz-Schaeffer, W; Gempel, K; Sperl, W; Goebel, H; Hanefeld, F; Gartner, J
NEUROMUSCULAR DISORD. 2007; 17(9-10): 827-827.
Abstracts (Zeitschrift)
Distribution of mitochondrial haplogroups in coronary artery disease
Zimmermann, F; Stanger, O; Muller, E; Wiesbauer, M; Mayr, JA; Paulweber, B; Iglseder, B; Renner, W; Eder, W; Sperl, W; Kofler, B
FEBS J. 2007; 274: 229-229.
Abstracts (Zeitschrift)

2006

Beiträge in Fachzeitschriften

Allergic diseases and atopic sensitization in children related to farming and anthroposophic lifestyle--the PARSIFAL study.
Alfvén, T; Braun-Fahrländer, C; Brunekreef, B; von Mutius, E; Riedler, J; Scheynius, A; van Hage, M; Wickman, M; Benz, MR; Budde, J; Michels, KB; Schram, D; Ublagger, E; Waser, M; Pershagen, G;
Allergy. 2006; 61(4): 414-421.
Originalarbeiten (Zeitschrift)
Influence of hematocrit and localisation of punch in dried blood spots on levels of amino acids and acylcarnitines measured by tandem mass spectrometry.
Holub, M; Tuschl, K; Ratschmann, R; Strnadová, KA; Mühl, A; Heinze, G; Sperl, W; Bodamer, OA;
CLIN CHIM ACTA. 2006; 373(1-2): 27-31.
Originalarbeiten (Zeitschrift)
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
Horvath, R; Hudson, G; Ferrari, G; Fütterer, N; Ahola, S; Lamantea, E; Prokisch, H; Lochmüller, H; McFarland, R; Ramesh, V; Klopstock, T; Freisinger, P; Salvi, F; Mayr, JA; Santer, R; Tesarova, M; Zeman, J; Udd, B; Taylor, RW; Turnbull, D; Hanna, M; Fialho, D; Suomalainen, A; Zeviani, M; Chinnery, PF;
BRAIN. 2006; 129(Pt 7): 167-184.
Originalarbeiten (Zeitschrift)
A proinflammatory state is detectable in obese children and is accompanied by functional and morphological vascular changes.
Kapiotis, S; Holzer, G; Schaller, G; Haumer, M; Widhalm, H; Weghuber, D; Jilma, B; Roggla, G; Wolzt, M; Widhalm, K; Wagner, OF
Arterioscler Thromb Vasc Biol. 2006; 26(11):2541-2546
Originalarbeiten (Zeitschrift)
A novel sporadic mutation G14739A of the mitochondrial tRNA(Glu) in a girl with exercise intolerance.
Mayr, JA; Moslemi, AR; Förster, H; Kamper, A; Idriceanu, C; Muss, W; Huemer, M; Oldfors, A; Sperl, W;
Neuromuscul Disord. 2006; 16(12): 874-877.
Fallberichte
Platelet transfusion can mimic somatic mtDNA mutations.
Meierhofer, D; Ebner, S; Mayr, JA; Jones, ND; Kofler, B; Sperl, W;
LEUKEMIA. 2006; 20(2): 362-363.
Letter
Mitochondrial DNA mutations in renal cell carcinomas revealed no general impact on energy metabolism.
Meierhofer, D; Mayr, JA; Fink, K; Schmeller, N; Kofler, B; Sperl, W;
Br J Cancer. 2006; 94(2): 268-274.
Originalarbeiten (Zeitschrift)
Introducing a fast and simple PCR-RFLP analysis for the detection of mutant thiopurine S-methyltransferase alleles TPMT*3A and TPMT*3C.
Oender, K; Lanschuetzer, CM; Laimer, M; Klausegger, A; Paulweber, B; Kofler, B; Hintner, H; Bauer, JW;
J EUR ACAD DERMATOL. 2006; 20(4): 396-400.
Originalarbeiten (Zeitschrift)
Gangliocytes in neuroblastic tumors express alarin, a novel peptide derived by differential splicing of the galanin-like peptide gene.
Santic, R; Fenninger, K; Graf, K; Schneider, R; Hauser-Kronberger, C; Schilling, FH; Kogner, P; Ratschek, M; Jones, N; Sperl, W; Kofler, B;
J Mol Neurosci. 2006; 29(2):14-52
Originalarbeiten (Zeitschrift)
Deficiency of mitochondrial ATP synthase of nuclear genetic origin.
Sperl, W; Jesina, P; Zeman, J; Mayr, JA; Demeirleir, L; VanCoster, R; Pícková, A; Hansíková, H; Houst"ková, H; Krejcík, Z; Koch, J; Smet, J; Muss, W; Holme, E; Houstek, J;
Neuromuscul Disord. 2006; 16(12): 821-829.
Originalarbeiten (Zeitschrift)
Regarding diarrhea in liver transplant recipients: etiology and management.
Stelzmueller, I; Biebl, M; Graziadei, I; Wiesmayr, S; Margreiter, R; Bonatti, H;
Liver Transpl. 2006; 12(1):163-164
Kommentare
Ralstonia pickettii-innocent bystander or a potential threat?
Stelzmueller, I; Biebl, M; Wiesmayr, S; Eller, M; Hoeller, E; Fille, M; Weiss, G; Lass-Floerl, C; Bonatti, H;
Clin Microbiol Infect. 2006; 12(2):99-101
Editorials
Acute flaccid paralysis as initial symptom in 4 patients with novel E1alpha mutations of the pyruvate dehydrogenase complex.
Strassburg, HM; Koch, J; Mayr, J; Sperl, W; Boltshauser, E;
Neuropediatrics. 2006; 37(3):137-141
Originalarbeiten (Zeitschrift)
A flow sensor suitable for use with split-flow ventilation--first preclinical data.
Wald, M; Jeitler, V; Lawrenz, K; Weninger, M; Pollak, A; Kirchner, L;
Artif Organs. 2006; 30(11):888-891
Originalarbeiten (Zeitschrift)
Non-random geographical distribution of infant mortality in Austria 1984-2002.
Waldhoer, T; Haidinger, G; Wald, M; Heinzl, H;
Wien Klin Wochenschr. 2006; 118(11-12):341-347
Originalarbeiten (Zeitschrift)
Multiplex primer extension analysis for rapid detection of major European mitochondrial haplogroups.
Wiesbauer, M; Meierhofer, D; Mayr, JA; Sperl, W; Paulweber, B; Kofler, B;
Electrophoresis. 2006; 27(19): 3864-3868.
Originalarbeiten (Zeitschrift)
Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation.
Wortmann, S; Rodenburg, RJ; Huizing, M; Loupatty, FJ; de Koning, T; Kluijtmans, LA; Engelke, U; Wevers, R; Smeitink, JA; Morava, E;
Mol Genet Metab. 2006; 88(1):47-52
Originalarbeiten (Zeitschrift)
Refractory severe intestinal vasculitis due to Henoch-Schönlein purpura: successful treatment with plasmapheresis.
Wortmann, SB; Fiselier, TJ; Van De Kar, NC; Aarts, RA; Warris, A; Draaisma, JM;
Acta Paediatr. 2006; 95(5):622-623
Letter
Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2.
Zhang, B; McGee, B; Yamaoka, JS; Guglielmone, H; Downes, KA; Minoldo, S; Jarchum, G; Peyvandi, F; de Bosch, NB; Ruiz-Saez, A; Chatelain, B; Olpinski, M; Bockenstedt, P; Sperl, W; Kaufman, RJ; Nichols, WC; Tuddenham, EG; Ginsburg, D;
Blood. 2006; 107(5):1903-1907
Originalarbeiten (Zeitschrift)
Mycophenolate mofetil (Cellcept) in pediatric renal transplantation.
Zimmerhackl, LB; Wiesmayr, S; Kirste, G; Jungraithmayr, T;
Transplant Proc. 2006; 38(7):2038-2040
Übersichtsarbeiten

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

Two components in pathogenic mechanism of mitochondrial ATP synthase deficiency: Energy deprivation and ros production
Houstek, J; Mracek, T; Pecina, P; Vojtiskova, A; Jesina, P; Houstxxxkova, H; Mayr, JA; Sperl, W; Zeman, J
J INHERIT METAB DIS. 2006; 29: 117-117.
Abstracts (Zeitschrift)
Clinical spectrum of polymerase-gamma mutations in 9 pediatric patients
Koch, J; Mayr, J; Plecko, B; Haberlandt, E; Karall, D; Lauffer, H; Muller-Felber, W; Roschinger, W; Futterer, N; Freisinger, P; Horvath, R; Sperl, W
J INHERIT METAB DIS. 2006; 29: 121-121.
Abstracts (Zeitschrift)
Alarin a novel neuropeptide?
Kofler, B; Santic, R; Moritz, K; Fenninger, K; Voglas, E; Lang, R; Sperl, W
NEUROPEPTIDES. 2006; 40(2): 138-139.
Abstracts (Zeitschrift)
Severe peripheral neuropathy in a patient with 3-methylglutaconic aciduria and F1F0-ATP synthase deficiency of nuclear genetic origin
Mayr, JA; Koch, J; Kurnik, P; Pecina, P; Houstek, J; Sperl, W
J INHERIT METAB DIS. 2006; 29: 118-118.
Abstracts (Zeitschrift)
Mitochondrial phosphate carrier deficiency - A novel disorder of the oxidative phosphorylation
Mayr, V; Merkel, O; Kohlwein, SD; Gebhardt, BR; Bohles, H; Koch, J; Fotschl, U; Horvath, R; Jaksch, M; Freisinger, P; Sperl, W
J INHERIT METAB DIS. 2006; 29: 74-74.
Abstracts (Zeitschrift)
Acute flaccid paralysis as initial symptom in 4 patients with novel E1 alpha mutations of the pyruvate-dehydrogenase complex
Sperl, W; Koch, J; Strassburg, HM; Boltshauser, E; Mayr, J
J INHERIT METAB DIS. 2006; 29: 45-45.
Abstracts (Zeitschrift)
Insulin resistance, not obesity determines fatty liver in obese children
Weghuber, D; Roden, M; Franz, C; Chmelik, M; Torabia, S; Bischof, M; Gruber, S; Waldhausl, W; KIingler, A; Widhalm, K
INT J OBESITY. 2006; 30: S24-S24.
Abstracts (Zeitschrift)
An adolescent with more than 100 kg: what can be done?
Widhalm, K; Dietrich, S; Weghuber, D; Bartsch, A; Drennig, S
INT J OBESITY. 2006; 30: S36-S36.
Abstracts (Zeitschrift)

2005

Beiträge in Fachzeitschriften

Galanin and galanin receptors in human cancers.
Berger, A; Santic, R; Hauser-Kronberger, C; Schilling, FH; Kogner, P; Ratschek, M; Gamper, A; Jones, N; Sperl, W; Kofler, B;
NEUROPEPTIDES. 2005; 39(3): 353-359.
Übersichtsarbeiten
Colpo-wrap: a new continence procedure.
Boemers, TM; Schimke, CM;
BJU INT. 2005; 95(7): 1063-1064.
Originalarbeiten (Zeitschrift)
Yeast mediates lactic acidosis suppression after antibiotic cocktail treatment in short small bowel?
Bongaerts, G; Severijnen, R; Skladal, D; Bakkeren, J; Sperl, W;
SCAND J GASTROENTERO. 2005; 40(10): 1246-1250.
Originalarbeiten (Zeitschrift)
Opposite effects of CD 14/-260 on serum IgE levels in children raised in different environments.
Eder, W; Klimecki, W; Yu, L; von Mutius, E; Riedler, J; Braun-Fahrländer, C; Nowak, D; Martinez, FD;
J ALLERGY CLIN IMMUN. 2005; 116(3): 601-607.
Originalarbeiten (Zeitschrift)
Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism.
Horváth, R; Freisinger, P; Rubio, R; Merl, T; Bax, R; Mayr, JA; Shawan, ; Müller-Höcker, J; Pongratz, D; Moller, LB; Horn, N; Jaksch, M;
J INHERIT METAB DIS. 2005; 28(4): 479-492.
Originalarbeiten (Zeitschrift)
GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form.
Janecke, AR; Hennies, HC; Günther, B; Gansl, G; Smolle, J; Messmer, EM; Utermann, G; Rittinger, O;
Am J Med Genet A. 2005; 133A(2):128-131
Originalarbeiten (Zeitschrift)
Pharmacological and functional characterization of galanin-like peptide fragments as potent galanin receptor agonists.
Lang, R; Berger, A; Santic, R; Geisberger, R; Hermann, A; Herzog, H; Kofler, B;
NEUROPEPTIDES. 2005; 39(3): 179-184.
Originalarbeiten (Zeitschrift)
Rapid screening of the entire mitochondrial DNA for low-level heteroplasmic mutations.
Meierhofer, D; Mayr, JA; Ebner, S; Sperl, W; Kofler, B;
MITOCHONDRION. 2005; 5(4): 282-296.
Originalarbeiten (Zeitschrift)
Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome.
Messmer, EM; Kenyon, KR; Rittinger, O; Janecke, AR; Kampik, A;
Ophthalmology. 2005; 112(2):e1-e6
Originalarbeiten (Zeitschrift)
Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency.
Morava, E; Wortmann, SB; van Essen, HZ; Liebrand van Sambeek, R; Wevers, R; van Diggelen, OP;
J Inherit Metab Dis. 2005; 28(5):703-706
Originalarbeiten (Zeitschrift)
MLPA. A promising molecular screening method for use in unexplained mental retardation
Rittinger, O;
MONATSSCHR KINDERH. 2005; 153(11): 1105-1105.
Originalarbeiten (Zeitschrift)
Epigenetik und pädiatrische Krankheitsbilder
Rittinger, O; Kotzot, D;
Monatsschrift Kinderheilkunde. 2005; 153 (7): 685-699.
Originalarbeiten (Zeitschrift)
[Menkes" disease: heterozygosity testing by quantitative real-time PCR and the dilemma of therapeutic support].
Rittinger, O; Sander, G; Schaller, A; Gallati, S; Mayr, H; Sperl, W;
KLIN PADIATR. 2005; 217(5): 286-290.
Originalarbeiten (Zeitschrift)
Nutritional infantile vitamin B12 deficiency: pathobiochemical considerations in seven patients
Roschitz, B; Plecko, B; Huemer, M; Biebl, A; Foerster, H; Sperl, W
ARCH DIS CHILD-FETAL. 2005; 90(3): 281-282.
Letter
Congenital obstructive distal urethral membrane.
Schimke, CM; Boemers, TM; Detlefsen, B;
J Pediatr Urol. 2005; 1(6): 429-431.
Originalarbeiten (Zeitschrift)
Bacterial and fungal components in house dust of farm children, Rudolf Steiner school children and reference children--the PARSIFAL Study.
Schram, D; Doekes, G; Boeve, M; Douwes, J; Riedler, J; Ublagger, E; von Mutius, E; Budde, J; Pershagen, G; Nyberg, F; Alm, J; Braun-Fahrländer, C; Waser, M; Brunekreef, B;
ALLERGY. 2005; 60(5): 611-618.
Originalarbeiten (Zeitschrift)
Bacterial and fungal agents in house dust and wheeze in children: the PARSIFAL study.
Schram-Bijkerk, D; Doekes, G; Douwes, J; Boeve, M; Riedler, J; Ublagger, E; von Mutius, E; Benz, MR; Pershagen, G; van Hage, M; Scheynius, A; Braun-Fahrländer, C; Waser, M; Brunekreef, B;
CLIN EXP ALLERGY. 2005; 35(10): 1272-1278.
Originalarbeiten (Zeitschrift)
A cluster of rotavirus enteritis in adult transplant recipients.
Stelzmueller, I; Dunst, KM; Hengster, P; Wykypiel, H; Steurer, W; Wiesmayr, S; Margreiter, R; Bonatti, H;
Transpl Int. 2005; 18(4):470-474
Originalarbeiten (Zeitschrift)
Mycobacterium chelonae skin infection in kidney-pancreas recipient.
Stelzmueller, I; Dunst, KM; Wiesmayr, S; Zangerie, R; Hengster, P; Bonatti, H;
Emerg Infect Dis. 2005; 11(2):352-354
Letter
Severe intra-abdominal infection due to Streptococcus Milleri following adjustable gastric banding.
Stelzmueller, I; Hoeller, E; Wiesmayr, S; Kafka, R; Aigner, F; Weiss, H; Bonatti, H;
Obes Surg. 2005; 15(4):576-579
Originalarbeiten (Zeitschrift)
Validation of questions on asthma and wheeze in farming and anthroposophic children.
Ublagger, E; Schreuer, M; Eder, W; von Mutius, E; Benz, MR; Braun-Fahrländer, C; Moeller, A; Brunekreef, B; Schram, D; Wickman, M; Swartz, J; Pershagen, G; Riedler, J;
Clin Exp Allergy. 2005; 35(8):1033-1039
Originalarbeiten (Zeitschrift)
Effect of the Y-piece of the ventilation circuit on ventilation requirements in extremely low birth weight infants.
Wald, M; Jeitler, V; Lawrenz, K; Weninger, M; Kirchner, L;
Intensive Care Med. 2005; 31(8):1095-1100
Originalarbeiten (Zeitschrift)
Dead-space washout by split-flow ventilation. A new method to reduce ventilation needs in premature infants.
Wald, M; Kalous, P; Lawrenz, K; Jeitler, V; Weninger, M; Kirchner, L;
Intensive Care Med. 2005; 31(5):674-679
Originalarbeiten (Zeitschrift)
Trends in infant mortality in Austria between 1984 and 2002.
Waldhör, T; Vutuc, C; Haidinger, G; Mittlböck, M; Kirchner, L; Wald, M;
Wien Klin Wochenschr. 2005; 117(15-16):548-553
Originalarbeiten (Zeitschrift)
Exposure to pets, and the association with hay fever, asthma, and atopic sensitization in rural children.
Waser, M; von Mutius, E; Riedler, J; Nowak, D; Maisch, S; Carr, D; Eder, W; Tebow, G; Schierl, R; Schreuer, M; Braun-Fahrländer, C;
Allergy. 2005; 60(2):177-184
Originalarbeiten (Zeitschrift)
A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation.
Wieland, I; Sabathil, J; Ostendorf, A; Rittinger, O; Röpke, A; Winnepenninckx, B; Kooy, F; Holinski-Feder, E; Wieacker, P;
Neurogenetics. 2005; 6(1):45-47
Letter
Long-term glomerular filtration rate following pediatric liver transplantation.
Wiesmayr, S; Jungraithmayr, TC; Ellemunter, H; Stelzmüller, I; Bonatti, H; Margreiter, R; Zimmerhackl, LB;
Pediatr Transplant. 2005; 9(5):604-611
Originalarbeiten (Zeitschrift)
Nocardiosis following solid organ transplantation: a single-centre experience.
Wiesmayr, S; Stelzmueller, I; Stelzmüller, I; Tabarelli, W; Bargehr, D; Graziadei, I; Freund, M; Ladurner, R; Steurer, W; Geltner, C; Mark, W; Margreiter, R; Bonatti, H;
Transpl Int. 2005; 18(9):1048-1053
Originalarbeiten (Zeitschrift)
Listeria meningitis in transplant recipients.
Wiesmayr, S; Tabarelli, W; Stelzmueller, I; Nachbaur, D; Boesmueller, C; Wykypiel, H; Pfausler, B; Margreiter, R; Allerberger, F; Bonatti, H;
Wien Klin Wochenschr. 2005; 117(5-6):229-233
Originalarbeiten (Zeitschrift)
Clinical and mutational spectrum of Mowat-Wilson syndrome.
Zweier, C; Thiel, CT; Dufke, A; Crow, YJ; Meinecke, P; Suri, M; Ala-Mello, S; Beemer, F; Bernasconi, S; Bianchi, P; Bier, A; Devriendt, K; Dimitrov, B; Firth, H; Gallagher, RC; Garavelli, L; Gillessen-Kaesbach, G; Hudgins, L; Kääriäinen, H; Karstens, S; Krantz, I; Mannhardt, A; Medne, L; Mücke, J; Kibaek, M; Krogh, LN; Peippo, M; Rittinger, O; Schulz, S; Schelley, SL; Temple, IK; Dennis, NR; Van der Knaap, MS; Wheeler, P; Yerushalmi, B; Zenker, M; Seidel, H; Lachmeijer, A; Prescott, T; Kraus, C; Lowry, RB; Rauch, A;
Eur J Med Genet. 2005; 48(2):97-111
Originalarbeiten (Zeitschrift)

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

Physical fitness and insulin sensitivity in morbidly obese children
Franz, C; Smekall, G; Weghuber, D; Jerabek, S; Widhalm, K
INT J OBESITY. 2005; 29: S151-S151.
Abstracts (Zeitschrift)
Glucose homeostasis and metabolic syndrome in juvenile obesity
Kiss, M; Weghuber, D; Franz, C; Widhalm, K
INT J OBESITY. 2005; 29: S149-S149.
Abstracts (Zeitschrift)
D-2-HYDROXYGLUTARIC ACIDURIA AND COMBINED RESPIRATORY CHAIN DEFICIENCY
Koch, J; Volkmar, B; Mayr, JA; Sass, JO; Sperl, W
J INHERIT METAB DIS. 2005; 28: 124-124.
Abstracts (Zeitschrift)
SINGLE FIBRE PCR REVEALS PATHOGENICITY OF THE MITOCHONDRIAL G14739A tRNA-Glu MUTATION IN A MYOPATHIC PATIENT
Mayr, JA; Moslemi, AR; Forster, H; Kamper, A; Muss, W; Huemer, M; Oldfors, A; Sperl, W
J INHERIT METAB DIS. 2005; 28: 133-133.
Abstracts (Zeitschrift)
Unusual presentation of subtelomeric monosomy 1p36.3 with PWS-like food foraging behaviour and type 2 diabetes
Rittinger, O;
CHROMOSOME RES. 2005; 13: 17-17.
Abstracts (Zeitschrift)
Galanin-like peptide inhibits substance P and CGRP induced microvascular permeability
Schmidhuber, S; Bauer, JW; Kofler, B; Brain, S
J INVEST DERMATOL. 2005; 125(3): A47-A47.
Abstracts (Zeitschrift)
ISOLATED DEFECTS OF MITOCHONDRIAL ATP SYNTHASE: OVERVIEW OF 15 CASES
Sperl, W; Jesina, P; Zeman, J; Mayr, J; van Coster, R; Smet, J; Houstek, J
J INHERIT METAB DIS. 2005; 28: 134-134.
Abstracts (Zeitschrift)
Intracellular lipid content measured by in vivo H-1 nuclear magnetic resonance spectroscopy: correlation with insulin sensitivity in obese children
Weghuber, D; Roden, M; Franz, C; Gruber, S; Chmelik, M; Torabia, S; Bischof, M; Waldhausl, W; Widhalm, K
INT J OBESITY. 2005; 29: S145-S145.
Abstracts (Zeitschrift)
The significance of serum lipoprotein ratios as surrogates of insulin action and secretion in young Europeans
Weghuber, D; Roden, M; Franz, C; Pacini, F; Klingler, A; Widhalm, K
INT J OBESITY. 2005; 29: S145-S145.
Abstracts (Zeitschrift)
Mutations in LMAN1 and MCFD2 may account for all cases of combined deficiency of factor V and factor VIII.
Zhang, B; McGee, B; Nichols, WC; Guglielmone, H; Downes, K; Peyvandi, F; de Bosch, NB; Ruiz-Saez, A; Chatelain, B; Olpinski, M; Bockenstedt, P; Sperl, W; Kaufman, RJ; Ginsburg, D
BLOOD. 2005; 106(11): 215A-215A.
Abstracts (Zeitschrift)

2004

Beiträge in Fachzeitschriften

Galanin receptor subtype GalR2 mediates apoptosis in SH-SY5Y neuroblastoma cells.
Berger, A; Lang, R; Moritz, K; Santic, R; Hermann, A; Sperl, W; Kofler, B;
ENDOCRINOLOGY. 2004; 145(2): 500-507.
Originalarbeiten (Zeitschrift)
Toll-like receptor 2 as a major gene for asthma in children of European farmers.
Eder, W; Klimecki, W; Yu, L; von Mutius, E; Riedler, J; Braun-Fahrländer, C; Nowak, D; Martinez, FD;
J ALLERGY CLIN IMMUN. 2004; 113(3): 482-488.
Originalarbeiten (Zeitschrift)
The problem of interlab variation in methods for mitochondrial disease diagnosis: enzymatic measurement of respiratory chain complexes.
Gellerich, FN; Mayr, JA; Reuter, S; Sperl, W; Zierz, S;
Mitochondrion. 2004; 4(5-6): 427-439.
Originalarbeiten (Zeitschrift)
Expression of neuropeptide galanin and galanin receptors in human skin
Kofler, B; Berger, A; Santic, R; Moritz, K; Almer, D; Tuechler, C; Lang, R; Emberger, M; Klausegger, A; Sperl, W; Bauer, JW
J INVEST DERMATOL. 2004; 122(4): 1050-1053.
Letter
Reduced respiratory control with ADP and changed pattern of respiratory chain enzymes as a result of selective deficiency of the mitochondrial ATP synthase.
Mayr, JA; Paul, J; Pecina, P; Kurnik, P; Förster, H; Fötschl, U; Sperl, W; Houstek, J;
PEDIATR RES. 2004; 55(6): 988-994.
Originalarbeiten (Zeitschrift)
Decrease of mitochondrial DNA content and energy metabolism in renal cell carcinoma.
Meierhofer, D; Mayr, JA; Foetschl, U; Berger, A; Fink, K; Schmeller, N; Hacker, GW; Hauser-Kronberger, C; Kofler, B; Sperl, W;
CARCINOGENESIS. 2004; 25(6): 1005-1010.
Originalarbeiten (Zeitschrift)
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: impaired catabolism of isoleucine presenting as neurodegenerative disease.
Sass, JO; Forstner, R; Sperl, W;
BRAIN DEV-JPN. 2004; 26(1): 12-14.
Fallberichte
Propionic acidemia revisited: a workshop report.
Sass, JO; Hofmann, M; Skladal, D; Mayatepek, E; Schwahn, B; Sperl, W;
CLIN PEDIATR. 2004; 43(9): 837-843.
Originalarbeiten (Zeitschrift)
Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation.
Sjarif, DR; Hellerud, C; van Amstel, JK; Kleijer, WJ; Sperl, W; Lacombe, D; Sass, JO; Beemer, FA; Duran, M; Poll-The, BT;
Eur J Hum Genet. 2004; 12(6):424-432
Originalarbeiten (Zeitschrift)
Mitochondrial DNA depletion in Alpers syndrome.
Tesarova, M; Mayr, JA; Wenchich, L; Hansikova, H; Elleder, M; Blahova, K; Sperl, W; Zeman, J;
NEUROPEDIATRICS. 2004; 35(4): 217-223.
Originalarbeiten (Zeitschrift)
Microbial exposure of rural school children, as assessed by levels of N-acetyl-muramic acid in mattress dust, and its association with respiratory health
van Strien, RT; Engel, R; Holst, O; Bufe, A; Eder, W; Waser, M; Braun-Fahrlander, C; Riedler, J; Nowak, D; von Mutius, E
J ALLERGY CLIN IMMUN. 2004; 113(5): 860-867.
Originalarbeiten (Zeitschrift)
A novel technique to measure position-dependent resistance changes in the vertebral arteries postmortem: new insights into the aetiology of SIDS?
Wald, M; Klupp, N; Lawrenz, K; Puig, S; Heimberger, K; Reiter, C; Pollak, A; Ipsiroglu, O;
Acta Paediatr. 2004; 93(9):1166-1171
Originalarbeiten (Zeitschrift)
Verification of anomalies of the central nervous system detected by prenatal ultrasound.
Wald, M; Lawrenz, K; Deutinger, J; Weninger, M;
Ultraschall Med. 2004; 25(3):214-217
Originalarbeiten (Zeitschrift)
Determinants of endotoxin levels in living environments of farmersxxx children and their peers from rural areas
Waser, M; Schierl, R; Von mutius, E; Maisch, S; Carr, D; Riedler, J; Eder, W; Schreuer, M; Nowak, D; Braun-Fahrlander, C
CLIN EXP ALLERGY. 2004; 34(3): 389-397.
Originalarbeiten (Zeitschrift)

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

Screening for somatic mtDNA alterations in neoplasias by denaturing high-performance liquid chromatography
Kofler, B; Meierhofer, D; Ebner, S; Mayr, J; Fink, K; Schmeller, N; Jones, N; Sperl, W
BBA-BIOENERGETICS. 2004; 1657: 28-29.
Abstracts (Zeitschrift)
Dead space free flow sensor reduces the Ventilation effort in very low birth weight infants: an experimental study
M Wald, V Jeitler, K Lawrenz, M Manfred Weninger
http://ccforum.com/supplements/8/S1 . 2004; 8(1):P13--24th internat. Symposium on Intensive Care an Emergency Medicine; 30.03.-02.04.2004; Brüssel.
Abstracts (Zeitschrift)
A novel heteroplasmic G14739A mutation in the mitochondrial tRNAGlu in a myopathic patient
Mayr, J; Forster, H; Kamper, A; Muss, W; Huemer, M; Sperl, W
BBA-BIOENERGETICS. 2004; 1657: 50-50.
Abstracts (Zeitschrift)
Regulation of galanin gene expression in human keratinocytes
Moritz, K; Voglas, E; Sperl, W; Bauer, JW; Kofler, B
EXP DERMATOL. 2004; 13(9): 585-585.
Abstracts (Zeitschrift)
Non-alcoholic steatohepatitis in children and adolescents
Weghuber, D; Ciba, I; Widhalm, K
INT J OBESITY. 2004; 28: S122-S122.
Abstracts (Zeitschrift)
Prevalence of insulin resistance in morbid obesity in young Europeans
Weghuber, D; Roden, M; Tura, A; Pacini, G; Bischof, M; Widhalm, K
DIABETOLOGIA. 2004; 47: A151-A151.
Abstracts (Zeitschrift)
Prevalence of insulin resistance in morbid obesity in young Europeans
Weghuber, D; Roden, M; Tura, A; Pacini, G; Bischof, M; Widhalm, K
INT J OBESITY. 2004; 28: S118-S118.
Abstracts (Zeitschrift)

Monographien (Bücher mit wissenschaftlichem Inhalt)

Mitochondriale Enzephalomyopathien im Kindesalter - kritische Aspekte zu Diagnostik und Therapie.
Sperl, W; Freisinger, P;
2004.

2003

Beiträge in Fachzeitschriften

X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15.
Bader, I; Brandau, O; Achatz, H; Apfelstedt-Sylla, E; Hergersberg, M; Lorenz, B; Wissinger, B; Wittwer, B; Rudolph, G; Meindl, A; Meitinger, T;
Invest Ophthalmol Vis Sci. 2003; 44(4): 1458-1463.
Originalarbeiten (Zeitschrift)
125I-labeled galanin binding sites in congenital innervation defects of the distal colon.
Berger, A; Kofler, B; Santic, R; Zipperer, E; Sperl, W; Hauser-Kronberger, C;
Acta Neuropathol. 2003; 105(1): 43-48.
Originalarbeiten (Zeitschrift)
Severe depletion of mitochondrial DNA in spinal muscular atrophy
Berger, A; Mayr, JA; Meierhofer, D; Fotschl, U; Bittner, R; Budka, H; Grethen, C; Huemer, M; Kofler, B; Sperl, W
ACTA NEUROPATHOL. 2003; 105(3): 245-251.
Originalarbeiten (Zeitschrift)
Galanin and galanin receptors in human gliomas
Berger, A; Santic, R; Almer, D; Hauser-Kronberger, C; Huemer, M; Humpel, C; Stockhammer, G; Sperl, W; Kofler, B
ACTA NEUROPATHOL. 2003; 105(6): 555-560.
Originalarbeiten (Zeitschrift)
Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I.
Budde, SM; van den Heuvel, LP; Smeets, RJ; Skladal, D; Mayr, JA; Boelen, C; Petruzzella, V; Papa, S; Smeitink, JA;
J Inherit Metab Dis. 2003; 26(8): 813-815.
Originalarbeiten (Zeitschrift)
X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum.
De Falco, F; Cainarca, S; Andolfi, G; Ferrentino, R; Berti, C; Rodríguez Criado, G; Rittinger, O; Dennis, N; Odent, S; Rastogi, A; Liebelt, J; Chitayat, D; Winter, R; Jawanda, H; Ballabio, A; Franco, B; Meroni, G;
AM J MED GENET A. 2003; 120A(2): 222-228.
Übersichtsarbeiten
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.
Ofman, R; Ruiter, JP; Feenstra, M; Duran, M; Poll-The, BT; Zschocke, J; Ensenauer, R; Lehnert, W; Sass, JO; Sperl, W; Wanders, RJ;
Am J Hum Genet. 2003; 72(5):1300-1307
Originalarbeiten (Zeitschrift)
Ausstellung einer Bestätigung zum Bezug einer erhöhten Familienbeihilfe bei Kindern und Jugendlichen mit chronischen Atemwegserkrankungen
Riedler, J; Götz, M; Altenriederer, M; Bauer, M; Bogyi, M; Eber, E; Eitelberger, F; Frischer, T; Göpfrich, H; Grillenberger, A; Horak, E; Huttegger, I; Kurz, H; Litscher, H; Schalk, A; Simma, B; Szepalusi, Z; Schmitzberger, R; Wenger, E; Zach, M;
Monatsschrift Kinderheilkunde. 2003; 5: 566-568.
Übersichtsarbeiten
Malignant astrocytoma arising 10 years after combined treatment of craniopharyngioma
Rittinger, O; Kranzinger, M; Jones, R; Jones, N
J PEDIATR ENDOCR MET. 2003; 16(1): 97-101.
Originalarbeiten (Zeitschrift)
Hypohomocysteinaemia and highly increased proportion of S-sulfonated plasma transthyretin in molybdenum cofactor deficiency.
Sass, JO; Kishikawa, M; Puttinger, R; Reiss, J; Erwa, W; Shimizu, A; Sperl, W;
J Inherit Metab Dis. 2003; 26(1):80-82
Originalarbeiten (Zeitschrift)
S-homocysteinylation of transthyretin is detected in plasma and serum of humans with different types of hyperhomocysteinemia.
Sass, JO; Nakanishi, T; Sato, T; Sperl, W; Shimizu, A;
Biochem Biophys Res Commun. 2003; 310(1):242-246
Originalarbeiten (Zeitschrift)
The clinical spectrum of mitochondrial disease in 75 pediatric patients.
Skladal, D; Sudmeier, C; Konstantopoulou, V; Stöckler-Ipsiroglu, S; Plecko-Startinig, B; Bernert, G; Zeman, J; Sperl, W;
Clin Pediatr (Phila). 2003; 42(8):703-710
Originalarbeiten (Zeitschrift)
Fatal air embolism in an extremely low birth weight infant: can it be caused by intravenous injections during resuscitation?
Wald, M; Kirchner, L; Lawrenz, K; Amann, G;
Intensive Care Med. 2003; 29(4):630-633
Originalarbeiten (Zeitschrift)
A very low birth weight infant with Candida nephritis with fungus balls. Full recovery after pyelotomy and antifungal combination therapy.
Wald, M; Lawrenz, K; Kretzer, V; Weninger, M; Pumberger, W; Pollak, A; Zaknun, D;
Eur J Pediatr. 2003; 162(9):642-643
Letter
De novo 9-break-event in one chromosome 21 combined with a microdeletion in 21q22.11 in a mentally retarded boy with short stature.
Weise, A; Rittinger, O; Starke, H; Ziegler, M; Claussen, U; Liehr, T;
Cytogenet Genome Res. 2003; 103(1-2):14-16
Originalarbeiten (Zeitschrift)

2002

Beiträge in Fachzeitschriften

Elevated expression of galanin receptors in childhood neuroblastic tumors.
Berger, A; Tuechler, C; Almer, D; Kogner, P; Ratschek, M; Kerbl, R; Iismaa, TP; Jones, N; Sperl, W; Kofler, B;
NEUROENDOCRINOLOGY. 2002; 75(2): 130-138.
Originalarbeiten (Zeitschrift)
Sudden infant death: no evidence for linkage to common polymorphisms in the uncoupling protein-1 and the beta3-adrenergic receptor genes.
Fatemi, A; Item, C; Stöckler-Ipsiroglu, S; Ipsiroglu, O; Sperl, W; Patsch, W; Strobl, W;
EUR J PEDIATR. 2002; 161(6): 337-339.
Originalarbeiten (Zeitschrift)
Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry.
Gempel, K; Kiechl, S; Hofmann, S; Lochmüller, H; Kiechl-Kohlendorfer, U; Willeit, J; Sperl, W; Rettinger, A; Bieger, I; Pongratz, D; Gerbitz, KD; Bauer, MF;
J INHERIT METAB DIS. 2002; 25(1): 1-27.
Originalarbeiten (Zeitschrift)
Mitochondrial energy metabolism in very premature neonates.
Wenchich, L; Zeman, J; Hansíková, H; Plavka, R; Sperl, W; Houstek, J;
BIOL NEONATE. 2002; 81(4): 229-235.
Originalarbeiten (Zeitschrift)

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

Cochlear Implantation in MELAS-Syndrome: A Case Report.
Moser, G; Supersberger, H; Sperl, W; Mayr, JA; Mair, A; Albegger, K;
Elsevier, Abstract-CD. 2002; 128-129--8th International Congress of Paediatric Otorhinolaryngology; 11.-14.09.2002; Oxford. (ISBN: 978-0444512376 )
Abstracts (Zeitschrift)
Cochlear Implantation in MELAS-Syndrome: A case report.
Sperl, W; Mayr, JA; Moser, G; Supersberger, H; Albegger, K; Rauscher, C;
J Inherit Metab Dis. 2002; 25(Suppl 1):81-81.-40th Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM); 03.-06.09.2002; Dublin.
Fallberichte
Tissue specific depletion of mitochondrial DNA in two boys with Alpers syndrome
Tesarova, M; Mayr, JA; Wenchich, L; Hansikova, H; Eleder, M; Blahova, K; Sperl, W; Zeman, J
EUR J HUM GENET. 2002; 10: 207-207.
Abstracts (Zeitschrift)

2001

Beiträge in Fachzeitschriften

A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency.
Bauer, JW; Rouan, F; Kofler, B; Rezniczek, GA; Kornacker, I; Muss, W; Hametner, R; Klausegger, A; Huber, A; Pohla-Gubo, G; Wiche, G; Uitto, J; Hintner, H;
Am J Pathol. 2001; 158(2): 617-625.
Originalarbeiten (Zeitschrift)
Poor storage and handling of tissue mimics mitochondrial DNA depletion.
Berger, A; Bruschek, M; Grethen, C; Sperl, W; Kofler, B;
DIAGN MOL PATHOL. 2001; 10(1): 55-59.
Originalarbeiten (Zeitschrift)
Epidemiology of sudden infant death syndrome (SIDS) in the Tyrol before and after an intervention campaign.
Kiechl-Kohlendorfer, U; Peglow, UP; Kiechl, S; Oberaigner, W; Sperl, W;
WIEN KLIN WOCHENSCHR. 2001; 113(1-2): 27-32.
Originalarbeiten (Zeitschrift)
Is screening of the candidate gene necessary in unrelated partners of members of families with Herlitz junctional epidermolysis bullosa?
Klausegger, A; Pulkkinen, L; Pohla-Gubo, G; Dallinger, G; Puttinger, R; Uitto, J; Hintner, H; Bauer, JW;
J Invest Dermatol. 2001; 116(3): 474-475.
Letter
Biphasic response to human galanin of extracellular acidification in human Bowes melanoma cells.
Lang, R; Berger, A; Hermann, A; Kofler, B;
Eur J Pharmacol. 2001; 423(2-3): 135-141.
Originalarbeiten (Zeitschrift)
Treatment of neonatal hyperammonaemia.
Sass, JO; Sperl, W; Bachmann, C;
LANCET. 2001; 358(9294): 1727-1728.
Kommentare
A case of Ohtahara syndrome with olivary-dentate dysplasia and agenesis of mamillary bodies.
Trinka, E; Rauscher, C; Nagler, M; Moroder, T; Ladurner, G; Irnberger, E; Sperl, W; Pilz, P;
EPILEPSIA. 2001; 42(7): 950-953.
Fallberichte
Intrauterine blood flow and long-term intellectual, neurologic, and social development.
Wienerroither, H; Steiner, H; Tomaselli, J; Lobendanz, M; Thun-Hohenstein, L;
Obstet Gynecol. 2001; 97(3): 449-453.
Originalarbeiten (Zeitschrift)

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

Up-regulation of galanin gene expression by heat treatment in human keratinocytes
Bauer, J; Almer, D; Kofler, B; Klausegger, A; Sperl, W
J INVEST DERMATOL. 2001; 117(2): 527-527.
Abstracts (Zeitschrift)
Free fatty acids inhibit the glucose-stimulated increase of intramuscular glucose-6-phosphate concentration in man
Krebs, M; Krssak, M; Nowotny, P; Weghuber, D; Bischof, M; Stingl, H; Furnsinn, C; Roden, M
DIABETES. 2001; 50: A25-A25.
Abstracts (Zeitschrift)

2000

Beiträge in Fachzeitschriften

Lactobacilli and acidosis in children with short small bowel.
Bongaerts, G; Bakkeren, J; Severijnen, R; Sperl, W; Willems, H; Naber, T; Wevers, R; van Meurs, A; Tolboom, J;
J PEDIATR GASTR NUTR. 2000; 30(3): 288-293.
Originalarbeiten (Zeitschrift)
Peptide YY-2 (PYY2) and pancreatic polypeptide-2 (PPY2): species-specific evolution of novel members of the neuropeptide Y gene family.
Couzens, M; Liu, M; Tüchler, C; Kofler, B; Nessler-Menardi, C; Parker, RM; Klocker, H; Herzog, H;
Genomics. 2000; 64(3): 318-323.
Originalarbeiten (Zeitschrift)
Oral creatine supplementation in Duchenne muscular dystrophy: a clinical and 31P magnetic resonance spectroscopy study.
Felber, S; Skladal, D; Wyss, M; Kremser, C; Koller, A; Sperl, W;
NEUROL RES. 2000; 22(2): 145-150.
Originalarbeiten (Zeitschrift)
Hyperketonaemia in glycerol kinase deficiency.
Sjarif, DR; Dorland, L; Sperl, W; de Koning, TJ; Beemer, FA; Poll-The, BT; Duran, M;
J INHERIT METAB DIS. 2000; 23(7): 760-764.
Originalarbeiten (Zeitschrift)
[SIDS prevention program in Tyrol].
Sperl, W; Kiechl-Kohlendorfer, U; Pupp, U; Haberlandt, E; Skladal, D; Brunner, M; Mangold, B; Kiechl, S; Rabl, W; Oberaigner, W;
WIEN KLIN WOCHENSCHR. 2000; 112(5): 209-215.
Originalarbeiten (Zeitschrift)
Odd-numbered long-chain fatty acids in propionic acidaemia.
Sperl, W; Murr, C; Skladal, D; Sass, JO; Suormala, T; Baumgartner, R; Wendel, U;
EUR J PEDIATR. 2000; 159(1-2): 54-58.
Originalarbeiten (Zeitschrift)

Monographien (Bücher mit wissenschaftlichem Inhalt)

Zur klinischen Variabilität der Mitochondriopathien im Kindesalter.
Sperl, W; Schernthaner, C; Mayr, H
Aktuelle Neuropäd 1999, M. Millner (hrsg.) Novartis , 2000 ; Pharma Verlag Nürnberg; 2000.

1999

Beiträge in Fachzeitschriften

Glutaric aciduria type I: ultrasonographic demonstration of early signs.
Forstner, R; Hoffmann, GF; Gassner, I; Heideman, P; De Klerk, JB; Lawrenz-Wolf, B; Doringer, E; Weiss-Wichert, P; Tröger, J; Colombo, JP; Plöchl, E;
PEDIATR RADIOL. 1999; 29(2): 138-143.
Originalarbeiten (Zeitschrift)
Re: "Comments on a meta-analysis of the relation between dietary calcium intake and blood pressure".
Greenland, S;
AM J EPIDEMIOL. 1999; 149(8): 786-787.
Author reply
Gram type-specific broad-range PCR amplification for rapid detection of 62 pathogenic bacteria.
Klausegger, A; Hell, M; Berger, A; Zinober, K; Baier, S; Jones, N; Sperl, W; Kofler, B;
J CLIN MICROBIOL. 1999; 37(2): 464-466.
Originalarbeiten (Zeitschrift)
Simplified PCR set-up using a frozen preformulated mix for the detection of cytomegalovirus.
Kofler, B; Klausegger, A;
Diagn Microbiol Infect Dis. 1999; 34(1): 33-35.
Originalarbeiten (Zeitschrift)

1998

Beiträge in Fachzeitschriften

Living at high altitude and risk of sudden infant death syndrome.
Kohlendorfer, U; Kiechl, S; Sperl, W;
ARCH DIS CHILD. 1998; 79(6): 506-509.
Originalarbeiten (Zeitschrift)
Sudden infant death syndrome: risk factor profiles for distinct subgroups.
Kohlendorfer, U; Kiechl, S; Sperl, W;
AM J EPIDEMIOL. 1998; 147(10): 960-968.
Originalarbeiten (Zeitschrift)
Galanin and galanin receptor expression in neuroblastoma.
Tuechler, C; Hametner, R; Jones, N; Jones, R; Iismaa, TP; Sperl, W; Kofler, B;
ANN NY ACAD SCI. 1998; 863: 438-441.
Originalarbeiten (Zeitschrift)
The therapeutic potential of oral creatine supplementation in muscle disease.
Wyss, M; Felber, S; Skladal, D; Koller, A; Kremser, C; Sperl, W;
MED HYPOTHESES. 1998; 51(4): 333-336.
Originalarbeiten (Zeitschrift)

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

Inherited Posterior Laryngeal Clefts : A Case Report.
Moser, G; Oesch, I; Huttegger,I; Albegger, K;
Int J Pediatr Otorhinolaryngol. 1998; 49(Suppl 1):-7th International Congress of Pediatric Otorhinolaryngology; 07.-10.06.1998; Helsinki.
Abstracts (Zeitschrift)

1997

Beiträge in Fachzeitschriften

Lactobacillus flora in short bowel syndrome.
Bongaerts, GP; Tolboom, JJ; Naber, AH; Bakkeren, JA; Severijnen, RS; Willems, JL; Sperl, WJ;
DIGEST DIS SCI. 1997; 42(8): 1611-1612.
Letter
Role of bacteria in the pathogenesis of short bowel syndrome-associated D-lactic acidemia.
Bongaerts, GP; Tolboom, JJ; Naber, AH; Sperl, WJ; Severijnen, RS; Bakkeren, JA; Willems, JL;
MICROB PATHOGENESIS. 1997; 22(5): 285-293.
Originalarbeiten (Zeitschrift)
Structural organization of the mouse and human GALR1 galanin receptor genes (Galnr and GALNR) and chromosomal localization of the mouse gene.
Jacoby, AS; Webb, GC; Liu, ML; Kofler, B; Hort, YJ; Fathi, Z; Bottema, CD; Shine, J; Iismaa, TP;
Genomics. 1997; 45(3): 496-508.
Originalarbeiten (Zeitschrift)
Mitochondrial respiratory chain succinate-cytochrome-c oxidoreductase deficiency and hepatic cirrhosis.
Sewell, AC; Herwig, J; Böhles, HJ; Sperl, W;
J INHERIT METAB DIS. 1997; 20(6): 837-838.
Kurzberichte/Notes
Cirrhosis in a child with deficiency of mitochondrial respiratory-chain succinate-cytochrome c-oxidoreductase.
Sewell, AC; Sperl, W; Herwig, J; Böhles, HJ;
J PEDIATR. 1997; 131(1 Pt 1): 166-168.
Letter
[Diagnosis and therapy of mitochondriopathies].
Sperl, W;
WIEN KLIN WOCHENSCHR. 1997; 109(3): 93-99.
Übersichtsarbeiten
Stridor as the major presenting symptom in riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
Sperl, W; Geiger, R; Lehnert, W; Rhead, W;
EUR J PEDIATR. 1997; 156(10): 800-802.
Originalarbeiten (Zeitschrift)

1996

Beiträge in Fachzeitschriften

Molecular cloning and characterisation of the mouse preprogalanin gene.
Kofler, B; Liu, ML; Jacoby, AS; Shine, J; Iismaa, TP;
Gene. 1996; 182(1-2): 71-75.
Originalarbeiten (Zeitschrift)
[Carnitine deficiency and carnitine therapy in a patient with Rett syndrome].
Plöchl, E; Sperl, W; Wermuth, B; Colombo, JP;
KLIN PADIATR. 1996; 208(3): 129-134.
Originalarbeiten (Zeitschrift)
Long-range map of a 3.5-Mb region in Xp11.23-22 with a sequence-ready map from a 1.1-Mb gene-rich interval.
Schindelhauer, D; Hellebrand, H; Grimm, L; Bader, I; Meitinger, T; Wehnert, M; Ross, M; Meindl, A;
Genome Res. 1996; 6(11): 1056-1069.
Originalarbeiten (Zeitschrift)

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

Familiäres Auftreten posteriorer laryngotrachealer Spaltenbildungen.
Moser, G; Oesch, I; Huttegger, I; Albegger, K;
Otorhinolaryngol Nova. 1996; 6(5-6):308-308.-40. Österreichischer HNO-Kongress; 11.-14.09.1996; Gmunden.
Abstracts (Zeitschrift)