' '
Deutsch | English    

Forschungsdatenbank PMU-SQQUID

UNIVERSITÄTSINSTITUT FÜR ANGEBORENE STOFFWECHSELERKRANKUNGEN:

PUBLIKATIONEN | Mitarbeiter/innen

98 Publikationen

2022

Beiträge in Fachzeitschriften

Quality of life in patients with Fabry?s disease: a cross-sectional study of 86 adults
Andonian, C; Beckmann, J; Mayer, O; Ewert, P; Freiberger, A; Huber, M; Kaemmerer, H; Kurschat, C; Lagler, F; Nagdyman, N; Pieper, L; Regenbogen, C; Freilinger, S
CARDIOVASC DIAGN THE. 2022;
Originalarbeiten (Zeitschrift)
Enalapril and Enalaprilat Pharmacokinetics in Children with Heart Failure Due to Dilated Cardiomyopathy and Congestive Heart Failure after Administration of an Orodispersible Enalapril Minitablet (LENA-Studies).
Laeer, S; Cawello, W; Burckhardt, BB; Ablonczy, L; Bajcetic, M; Breur, JMPJ; Dalinghaus, M; Male, C; de Wildt, SN; Breitkreutz, J; Faisal, M; Keatley-Clarke, A; Klingmann, I; Lagler, FB
PHARMACEUTICS. 2022; 14(6):
Originalarbeiten (Zeitschrift)
Evidence-based off-label use of drugs for children and adolescents International consortium of pediatric formularies providing the best-available evidence
Male, C; Neubert, A; Grytli, H; Gradwohl, C; Strommer, B; Lagler, FB; Rascher, W; Halvorsen, T; de Wildt, SN; van der Zanden, TM
MONATSSCHR KINDERH. 2022;
Originalarbeiten (Zeitschrift)
The Inflammation in the Cytopathology of Patients With Mucopolysaccharidoses- Immunomodulatory Drugs as an Approach to Therapy.
Wiesinger, AM; Bigger, B; Giugliani, R; Scarpa, M; Moser, T; Lampe, C; Kampmann, C; Lagler, FB;
Front Pharmacol. 2022; 13:863667
Übersichtsarbeiten

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

The Inflammation in the Pathology of Patients with Mucopolysaccharidosis
A-M Wiesinger, B Bigger, R Giugliani , C Lampe, M Scarpa, T Moser , C Kampmann, G Zimmermann, F B Lagler
The Inflammation in the Pathology of Patients with Mucopolysaccharidosis. 2022; -SSIEM Conference; 30.08-02.09.2022; Freiburg.
Abstracts (Zeitschrift)
A Decision Analysis Tool To Aid Diagnosis of ASMD Disease – Design and First Results
A-M Wiesinger, E Mengel, R Giugliani, C Aries, N Muschol, D Möslinger, V Konstantopoulou, S Scholl-Bürgi, D Karall, M Brunner-Krainz, B Plecko, G Zimmermann, F B Lagler
A Decision Analysis Tool To Aid Diagnosis of ASMD Disease – Design and First Results . 2022; -SSIEM Conference; 30.08-02.09.2022; Freiburg.
Abstracts (Zeitschrift)
Utilization of and Barriers to Individual Treatment Trials in Mucopolysaccharidosis - Interim Results of an Expert Survey
A-M Wiesinger, H Strobl, F B Lagler
Utilization of and Barriers to Individual Treatment Trials in Mucopolysaccharidosis - Interim Results of an Expert Survey. 2022; -SSIEM Conference; 30.08-02.09.2022; Freiburg.
Abstracts (Zeitschrift)
A Precision Medicine Tool for High Utilization and Quality of Individual Treatment Trials with Immunomodulatory Drugs in Mucopolysaccharidosis
Anna-Maria Wiesinger, Brian Bigger, Roberto Giugliani, Maurizio Scarpa, Tobias Moser, Christina Lampe, Christoph Kampmann, Florian B Lagler
A Precision Medicine Tool for High Utilization and Quality of Individual Treatment Trials with Immunomodulatory Drugs in Mucopolysaccharidosis. 2022; -ESGLD Conference (European Study Group on Lysosomal Diseases); 07-11.09.2022; Lancester.
Abstracts (Zeitschrift)
The Inflammation in the Cytopathology of Patients With Mucopolysaccharidoses- Immunomodulatory Drugs as an Approach to Therapy
Anna-Maria Wiesinger, Brian Bigger, Roberto Giugliani, Maurizio Scarpa, Tobias Moser, Christina Lampe, Christoph Kampmann, Florian B Lagler
The Inflammation in the Cytopathology of Patients With Mucopolysaccharidoses- Immunomodulatory Drugs as an Approach to Therapy. 2022; -ESDPPP Conference(European Society for Developmental Perinatal and Paediatric Pharmacology) ; 27-30.06.2022; Liverpool.
Abstracts (Zeitschrift)
Development of a Suspicion Index Tool (SIT) to Aid Diagnosis in ASMD Disease
Anna-Maria Wiesinger, Hannah Strobl, Florian B Lagler
Development of a Suspicion Index Tool (SIT) to Aid Diagnosis in ASMD Disease . 2022; -ESGLD Conference (European Study Group on Lysosomal Diseases); 07-11.09.2022; Lancaster.
Abstracts (Zeitschrift)
Implementation of an Expert Survey on Individual Treatment Trials (ESITT) in MPS
Anna-Maria Wiesinger, Hannah Strobl, Florian B Lagler
Implementation of an Expert Survey on Individual Treatment Trials (ESITT) in MPS. 2022; -ESDPPP Conference (European Society for Developmental Perinatal and Paediatric Pharmacology); 27-30.06.2022; Liverpool.
Abstracts (Zeitschrift)

2021

Beiträge in Fachzeitschriften

Impact of low-dose calcipotriol ointment on wound healing, pruritus and pain in patients with dystrophic epidermolysis bullosa: A randomized, double-blind, placebo-controlled trial.
Guttmann-Gruber, C; Hofbauer, JP; Tockner, B; Reichl, V; Klausegger, A; Hofbauer, P; Wolkersdorfer, M; Tham, KC; Lim, SS; Common, JE; Diem, A; Ude-Schoder, K; Hitzl, W; Lagler, F; Reichelt, J; Bauer, JW; Lang, R; Laimer, M
ORPHANET J RARE DIS. 2021; 16(1): 473
Originalarbeiten (Zeitschrift)
[Home infusion therapy for Pompe disease: Recommendations for German-speaking countries].
Hahn, A; Lampe, C; Boentert, M; Hundsberger, T; Loscher, W; Wenninger, S; Ziegler, A; Lagler, F; Ballhausen, D; Schlegel, T; Schoser, B
Fortschr Neurol Psychiatr. 2021; 89(12):630-636
Originalarbeiten (Zeitschrift)
Challenges in clinical trials for children and young people.
Lagler, FB; Hirschfeld, S; Kindblom, JM;
Arch Dis Child. 2021; 106(4):321-325
Übersichtsarbeiten
[Molecular medicine: pathobiochemistry as the key to personalized treatment of inherited diseases].
Mayr, JA; Feichtinger, RG; Achleitner, MT; Brugger, K; Kutsam, K; Spenger, J; Koch, J; Hofbauer, P; Lagler, FB; Sperl, W; Weghuber, D; Wortmann, SB;
Monatsschr Kinderheilkd. 2021; 169(9):828-836
Originalarbeiten (Zeitschrift)
Current knowledge, challenges and innovations in developmental pharmacology: A combined conect4children Expert Group and European Society for Developmental, Perinatal and Paediatric Pharmacology White Paper
Smits, A; Annaert, P; Cavallaro, G; De Cock, PAJG; de Wildt, SN; Kindblom, JM; Lagler, FB; Moreno, C; Pokorna, P; Schreuder, MF; Standing, JF; Turner, MA; Vitiello, B; Zhao, W; Weingberg, AM; Willmann, R; van den Anker, J; Allegaert, K
BRIT J CLIN PHARMACO. 2021;
Übersichtsarbeiten
Benefit-Risk Assessment of Off-Label Drug Use in Children: The Bravo Framework
van der Zanden, TM; Mooij, MG; Vet, NJ; Neubert, A; Rascher, W; Lagler, FB; Male, C; Grytli, H; Halvorsen, T; de Hoog, M; de Wildt, SN
CLIN PHARMACOL THER. 2021;
Originalarbeiten (Zeitschrift)

2020

Beiträge in Fachzeitschriften

Simulation Training to Improve Informed Consent and Pharmacokinetic/Pharmacodynamic Sampling in Pediatric Trials.
Burckhardt, BB; Ciplea, AM; Laven, A; Ablonczy, L; Klingmann, I; Laer, S; Kleine, K; Dalinghaus, M; Dukic, M; Breur, JMPJ; Van der Meulen, M; Swoboda, V; Schwender, H; Lagler, FB
FRONT PHARMACOL. 2020; 11: 603042
Originalarbeiten (Zeitschrift)
Prerequisites to support high-quality clinical trials in children and young people.
Hirschfeld, S; Lagler, FB; Kindblom, JM;
Arch Dis Child. 2020;
Übersichtsarbeiten
The Austrian Childrenxxxs Research Network Current successes and contributions to development of childrenxxxs medicines in Austria
Ladenstein, R; Mikolasek, A; Greber-Platzer, S; Thajer, X; Sperl, W; Lagler, F; H?gler, W; Eber, E; M?ller, T; Karall, D; Embacher-Aichhorn, S
PADIATR PADOL. 2020; 55(2): 90-92.
News-Items
Current and Emerging Therapies for Mitochondriopathies.
Lagler, FB;
Handb Exp Pharmacol. 2020; 261: 57-65.
Originalarbeiten (Zeitschrift)
Current and Emerging Therapies for Mucopolysaccharidoses.
Lagler, FB;
Handb Exp Pharmacol. 2020; 261: 39-56.
Originalarbeiten (Zeitschrift)
A comprehensive quality control system suitable for academic research: application in a pediatric study.
Makowski, N; Ciplea, AM; Ali, M; Burdman, I; Bartel, A; Burckhardt, BB;
Bioanalysis. 2020; 12(5): 319-333.
Originalarbeiten (Zeitschrift) – Beitrag als Studygroup-Member
Pharmacology of enalapril in children: a review.
Smeets, NJL; Schreuder, MF; Dalinghaus, M; Male, C; Lagler, FB; Walsh, J; Laer, S; de Wildt, SN
Drug Discov Today. 2020;
Übersichtsarbeiten
A quality control system for ligand-binding assay of plasma renin activity: Proof-of-concept within a pharmacodynamic study.
Suessenbach, FK; Makowski, N; Feickert, M; Gangnus, T; Tins, J; Burckhardt, BB;
J Pharm Biomed Anal. 2020; 181: 113090
Originalarbeiten (Zeitschrift) – Beitrag als Studygroup-Member
Relative Bioavailability of Enalapril Administered as Orodispersible Minitablets in Healthy Adults.
Van Hecken, A; Burckhardt, BB; Khalil, F; de Moon, J; Klingmann, I; Herbots, M; Laeer, S; Lagler, FB; Breitkreutz, J
Clin Pharmacol Drug Dev. 2020; 9(2):203-213
Originalarbeiten (Zeitschrift)
A 6-month randomized, double-blind, placebo-controlled trial of weekly exenatide in adolescents with obesity.
Weghuber, D; Forslund, A; Ahlström, H; Alderborn, A; Bergström, K; Brunner, S; Cadamuro, J; Ciba, I; Dahlbom, M; Heu, V; Hofmann, J; Kristinsson, H; Kullberg, J; Ladinger, A; Lagler, FB; Lidström, M; Manell, H; Meirik, M; Mörwald, K; Roomp, K; Schneider, R; Vilén, H; Widhalm, K; Zsoldos, F; Bergsten, P;
Pediatr Obes. 2020; 15(7): e12624
Originalarbeiten (Zeitschrift)
Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor.
Wortmann, SB; Van Hove, JLK; Derks, TGJ; Chevalier, N; Knight, V; Koller, A; Oussuren, E; Mayr, JA; van Spronsen, FJ; Lagler, FB; Gaughan, S; Van Schaftingen, E; Veiga-da-Cunha, M;
Blood. 2020; 136(9): 1033-1043.
Originalarbeiten (Zeitschrift)

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

THE IMPACT OF LOW-DOSE CALCIPOTRIOL OINTMENT ON WOUND HEALING, PRURITUS AND PAIN IN PATIENTS WITH DYSTROPHIC EPIDERMOLYSIS BULLOSA
Guttmann-Gruber, C; Hofbauer, JP; Tockner, B; Reichl, V; Hofbauer, P; Wolkersdorfer, M; Common, JE; Diem, A; Ude-Schoder, K; Hitzl, W; Lagler, F; Reichelt, J; Bauer, JW; Lang, R; Laimer, M
ACTA DERM-VENEREOL. 2020; 100: 41-41.
Abstracts (Zeitschrift)
Home infusion therapy with agalsidase alfa for patients with Fabry disease in Germany and Austria
Lachmann, A; Kurschat, C; Fritsch, A; Lagler, F; Sunder-Plassmann, G; Martus, P; Kralewski, M; Hennermann, JB
MOL GENET METAB. 2020; 129(2): S94-S94.
Abstracts (Zeitschrift)

2019

Beiträge in Fachzeitschriften

Orodispersible minitablets of enalapril for use in children with heart failure (LENA): Rationale and protocol for a multicentre pharmacokinetic bridging study and follow-up safety study.
Bajcetic, M; de Wildt, SN; Dalinghaus, M; Breitkreutz, J; Klingmann, I; Lagler, FB; Keatley-Clarke, A; Breur, JMPJ; Male, C; Jovanovic, I; Szatmari, A; Ablonczy, L; Burckhardt, BB; Cawello, W; Kleine, K; Obarcanin, E; Spatenkova, L; Swoboda, V; van der Meulen, M; Wagner, P; Walsh, J; Laer, S
CONT CLIN TRIAL COMM. 2019; 15: 100393
Originalarbeiten (Zeitschrift)
Simultaneous Semi-Mechanistic Population Pharmacokinetic Modeling Analysis of Enalapril and Enalaprilat Serum and Urine Concentrations From Child Appropriate Orodispersible Minitablets.
Faisal, M; Cawello, W; Burckhardt, BB; de Hoon, J; Laer, S; van Hecken, A; Herbort, M; Breitkreutz, J; Wiedey, W; Klingmann, I; Spatenkova, L; Lagler, F; Moder, A; Khalil, F;
FRONT PEDIATR. 2019; 7: 281
Originalarbeiten (Zeitschrift)
Model-dependent pharmacokinetic analysis of enalapril administered to healthy adult volunteers using orodispersible minitablets for use in pediatrics
Faisal, M; Cawello, W; Burckhardt, BB; Laer, S; de Hoon, J; van Hecken, A; Herbort, M; Breitkreutz, J; Wiedey, W; Klingmann, I; Spatenkova, L; Lagler, F; Moder, A; Khalil, F
DRUG DES DEV THER. 2019; 13: 481-490.
Originalarbeiten (Zeitschrift)
Extent, impact, and predictors of diagnostic delay in Pompe disease: A combined survey approach to unveil the diagnostic odyssey.
Lagler, FB; Moder, A; Rohrbach, M; Hennermann, J; Mengel, E; Gökce, S; Hundsberger, T; Rösler, KM; Karabul, N; Huemer, M;
JIMD Rep. 2019; 49(1): 8-95.
Originalarbeiten (Zeitschrift)
International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria.
Muntau, AC; Adams, DJ; Belanger-Quintana, A; Bushueva, TV; Cerone, R; Chien, YH; Chiesa, A; Coskun, T; de las Heras, J; Feillet, F; Katz, R; Lagler, F; Piazzon, F; Rohr, F; van Spronsen, FJ; Vargas, P; Wilcox, G; Bhattacharya, K
MOL GENET METAB. 2019; 127(1): 1-11.
Originalarbeiten (Zeitschrift)

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)
AN INTERIM ANALYSIS OF THE KAMPER AND PKUDOS REGISTRIES: EFFICACY AND SAFETY OF SAPROPTERIN BEFORE AND DURING PREGNANCY
Feillet, F; Ficicioglu, C; Lagler, F; Longo, N; Alm, J; Muntau, A; Burlina, A; Berlanger-Quintana, A; Trefz, F; Jurecki, E; Alvarez, I; Lilienstein, J; Burton, B
MOL GENET METAB. 2019; 127(3): 267-268.
Abstracts (Zeitschrift)

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
Intraoperative Tumor Bed Boost With Electrons in Breast Cancer of Clinical Stages I Through III: Updated 10-Year Results.
Kaiser, J; Kronberger, C; Moder, A; Kopp, P; Wallner, M; Reitsamer, R; Fischer, T; Fussl, C; Zehentmayr, F; Sedlmayer, F; Fastner, G;
Int J Radiat Oncol Biol Phys. 2018; 102(1): 92-101.
Originalarbeiten (Zeitschrift)
Pompe disease in Austria: clinical, genetic and epidemiological aspects.
Loscher, WN; Huemer, M; Stulnig, TM; Simschitz, P; Iglseder, S; Eggers, C; Moser, H; Moslinger, D; Freilinger, M; Lagler, F; Grinzinger, S; Reichhardt, M; Bittner, RE; Schmidt, WM; Lex, U; Brunner-Krainz, M; Quasthoff, S; Wanschitz, JV
J NEUROL. 2018; 265(1): 159-164.
Originalarbeiten (Zeitschrift)
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)
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)
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
Diacerein orphan drug development for epidermolysis bullosa simplex: A phase 2/3 randomized, placebo-controlled, double-blind clinical trial.
Wally, V; Hovnanian, A; Ly, J; Buckova, H; Brunner, V; Lettner, T; Ablinger, M; Felder, TK; Hofbauer, P; Wolkersdorfer, M; Lagler, FB; Hitzl, W; Laimer, M; Kitzmüller, S; Diem, A; Bauer, JW;
J Am Acad Dermatol. 2018; 78(5): 892-901.e7.
Originalarbeiten (Zeitschrift)

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

TAILORED SIMULATION TRAINING AS AN INNOVATIVE TRAINING CONCEPT TO FACILITATE SUCCESSFUL STUDY CONDUCT AND RECRUITMENT.
Burckhardt, BB; Ciplea, AM; Laven, A; Kleine, K; Ablonczy, L; Breur, JM; Dalinghaus, M; van der Meulen, M; Klingmann, I; Spatenkova, L; Swoboda, V; Bajcetic, M; Keatley-Clark, A; Laeer, S; Lagler, FB
CLIN PHARMACOL THER. 2018; 103: S61-S61.
Abstracts (Zeitschrift)
Infusion-related reactions in patients with mucopolysaccharidosis type II on idursulfase enrolled in the Hunter Outcome Survey (HOS)
Burton, BK; Lampe, C; Lagler, FB; Botha, J; Whiteman, DAH
MOL GENET METAB. 2018; 123(2): S27-S27.
Abstracts (Zeitschrift)
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)
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)
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)

2017

Beiträge in Fachzeitschriften

Placebo the best Migraine Prophylaxis for Children and Adolescents
Lagler, FB
MONATSSCHR KINDERH. 2017; 165(6): 510-511.
Editorials

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)
Novel tailored training concept to facilitate successful study conduct and optimise rercruitement in paediatric clinical trials
Burckhardt, J; Ciplea, A; Kleine, K; Ablonczy; Breur, H; Dalinghaus, M; Van der Meulen; Klingmann, I; Spatenkova, L; Swoboda, V; Bajcetic, M; Keatley-Clarke, A; Laeer, S; Lagler, FB
Arch Dis Child . 2017; 102(Suppl 3):-16th Biannual Congress of the European Society for Developmental Perinatal and Pediatric Pharmacology (ESDPPP); 20.-23.6.2017; Leuven.
Abstracts (Zeitschrift)
An Interim Analysis of the Kuvan® AdultMaternal Pediatric 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, E; Alvarez, I; Lilienstein, J; Burton, B
Journal of Inborn Errors of Metabolism & Screening . 2017; 5: 135--13th International Congress of Inborn Errors of Metabolism - ICIEM 2017; 05.-08.09.2017; Rio de Janeiro.
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)
18. Seventh Interim Analysis of the Kuvan® Adult Maternal Pediatric European Registry (KAMPER): Interim Results in BH4 Deficiency Patients
Van Spronsen, FJ; Burlina, A; Alm, J; Belanger-Quintana, A; Feillet, F; Lagler, FB; Muntau, AC; Trefz, F; Jurecki, E; Kittus, R; Alvarez, I;
Journal of Inborn Errors of Metabolism & Screening. 2017; 5: 133-134.-13th International Congress of Inborn Errors of Metabolism - ICIEM 2017; 05.-08.09.2017; Rio de Janeiro.
Abstracts (Zeitschrift)
Seventh Interim Analysis of the Kuvan® Adult Maternal Pediatric European Registry(KAMPER): Interim Results in Phenylketonuria Patients
Van Spronsen, FJ; Muntau, AC; Lagler, FB; Feillet, F; Alm, J; Burlina, A; Belanger-Quintana, A; Alvarez, I; Kittus, R; Lilienstein, J; Jurecki, E; Trefz, F
Journal of Inborn Errors of Metabolism & Screening . 2017; 5: 134-134.-13th International Congress of Inborn Errors of Metabolism - ICIEM 2017; 05.-08.09.2017; Rio de Janeiro.
Abstracts (Zeitschrift)

2016

Beiträge in Fachzeitschriften

Survival and local control rates of triple-negative breast cancer patients treated with boost-IOERT during breast-conserving surgery.
Fastner, G; Hauser-Kronberger, C; Moder, A; Reitsamer, R; Zehentmayr, F; Kopp, P; Fussl, C; Fischer, T; Deutschmann, H; Sedlmayer, F;
Strahlenther Onkol. 2016; 192(1): 1-7.
Originalarbeiten (Zeitschrift)
Late Onset Pompe Disease (LOPD)
Lessky-Hohl, R; Lagler, F
PADIATR PADOL. 2016; 51(4): 174-175.
Editorials

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

The sixth interim analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER): 9 pregnancies in PKU patients
Feillet, F; Lagler, FB; Alm, J; Muntau, AC; Burlina, AB; Belanger Quintana, A; Alvarez, I; Champigneulle, A; Trefz, FK
J Inherit Metab Dis . 2016; 39(Suppl 1):35-284.-SSIEM; 06.09.-09.09.2016; Rom.
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)
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)
The sixth interim analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER): interim results in PKU and BH4 deficiency patients
Muntau A C, Lagler FB, Feillet F, Alm J, Burlina AB, Belanger Quintana A, Alvarez I, Champigneulle A, Trefz FK, Van Spronsen FJ
J Inherit Metab Dis . 2016; 39(Suppl 1):35-284.-SSIEM; 06.09.-09.09.2016; Rom.
Abstracts (Zeitschrift)

2015

Beiträge in Fachzeitschriften

Enduring and emerging challenges of informed consent.
Lagler, FB; Weineck, SB; Schwab, M;
N Engl J Med. 2015; 372(22): 2170-2172.
Letter
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)
The Kuvan(®) Adult Maternal Paediatric European Registry (KAMPER) Multinational Observational Study: Baseline and 1-Year Data in Phenylketonuria Patients Responsive to Sapropterin.
Trefz, FK; Muntau, AC; Lagler, FB; Moreau, F; Alm, J; Burlina, A; Rutsch, F; Bélanger-Quintana, A; Feillet, F;
JIMD Rep. 2015; 23: 35-43.
Originalarbeiten (Zeitschrift)

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

Können Kompressionstextilien die propriozeptive Leistung verbessern - ist das Verletzungsprävention?
Edtinger, S; Landkammer, Y; Bernecker, R; Herfert, J; Moder, A; Wicker, A;
Deutsche Zeitschrift für Sportmedizin. 2015; 7-8: 174-174.-46. Deutscher Sportärztekongress ; 11.-12.09.2015; Frankfurt am Main.
Abstracts (Zeitschrift)
Clinical results of triple negative breast cancer patients treated by IOERT-boost during breast conserving surgery
Fastner, G; Hauser-Kronberger, C; Moder, A; Reitsamer, R; Zehentmayr, F; Kopp, P; Greil, R; Fischer, T; Dietze, O; Sedlmayer, F;
Radiotherapy and Oncology. 2015; 115(Supplement 1):235-235.-ESTRO 2015; 24.-28.04.2015; Barcelona.
Abstracts (Zeitschrift)
Fifth interim analysis of the Kuvan® adult maternal paediatric european registry (KAMPER): pregnancies
Feillet, F; Lagler, FB; Rogoff, D; Stucker, F; Alm, J; Muntau, AC; Burlina, A; Trefz, FK
J Inherit Metab Dis . 2015; 38(Suppl 1):1-34.-SSIEM; 01.-04.09.2015; Lyon.
Abstracts (Zeitschrift)
Mitofibrate CT1: a double-blind placebo controlled trial to evaluate efficacy and safety of bezafibrate for patients with mitochondrial myopathies
Lagler, FB; Koch, J; Freisinger, P; Mayr, J; Moder, A; Sperl, A
J Inherit Metab Dis . 2015; 38(Suppl 1):1-34.-SSIEM; 01.-04.09.2015; Lyon.
Abstracts (Zeitschrift)
48-hour BH4 loading test versus algorithmic phenylalanine challenge: analysis of an open-label multicentre study
Lagler, FB; Möslinger, D; Brunner-Krainz, M; Fekete, A; Konstantopoulou, V; Moder, A; Plecko-Startinig, B
J Inherit Metab Dis . 2015; 38(Suppl 1):1-34.-SSIEM; 01.-04.09.2015; Lyon.
Abstracts (Zeitschrift)
Fifth interim analysis of the Kuvan® adult maternal pediatric european registry (KAMPER): insights into management/ practice in patients with PKU
Lagler, FB; Muntau, AC; Feillet, F; Rogoff, D; Moreau-Stucker, F; Alm, J; Burlina, A; Trefz, FK
J Inherit Metab Dis . 2015; 38(Suppl 1):1-34.-SSIEM; 01.-04.09.2015; Lyon.
Abstracts (Zeitschrift)
Pompe diagnostic criteria - analysis of determining factors for correct and timely diagnosis of Pompe disease: a hypothese-generating crosssectional study
Lagler, FB; Rohrbach, M; Hennermann, J; Mengel, E; Karabul, N; Moder, A; Hundsberger, T; Rösler, K; Huemer, M
J Inherit Metab Dis . 2015; 38(Suppl 1):1-34.-SSIEM; 01.-04.09.2015; Lyon.
Abstracts (Zeitschrift)

2014

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

Fourth interim analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER)
Feillet, F; Burlina, A; Lagler, FB; Bélanger-Quintana, A; Alm, J; Muntau, AC; Rutsch, F; Rogoff, D; Trefz, FK
J Inherit Metab Dis . 2014; 37(Suppl 1):27-185.-SSIEM; 02.09.-05.09.2014; Innsbruck.
Abstracts (Zeitschrift)

2013

Beiträge in Fachzeitschriften

Pharmacokinetics of intravenous amiodarone in children.
Ramusovic, S; Läer, S; Meibohm, B; Lagler, FB; Paul, T;
Arch Dis Child. 2013; 98(12): 989-993.
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)
Topical diacerein for epidermolysis bullosa: a randomized controlled pilot study.
Wally, V; Kitzmueller, S; Lagler, F; Moder, A; Hitzl, W; Wolkersdorfer, M; Hofbauer, P; Felder, TK; Dornauer, M; Diem, A; Eiler, N; Bauer, JW;
Orphanet J Rare Dis. 2013; 8:69
Originalarbeiten (Zeitschrift)

2012

Beiträge in Fachzeitschriften

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)
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)

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

THE SAFETY OF SAPROPTERIN: SECOND INTERIM ANALYSIS OF THE KUVAN (R) ADULT MATERNAL PAEDIATRIC EUROPEAN REGISTRY (KAMPER)
Belanger-Quintana, A; Burlina, A; Alm, J; Trefz, FK; Muntau, AC; Feillet, F; Champigneulle, A; Lagler, FB
J INHERIT METAB DIS. 2012; 35: S43-S43.
Abstracts (Zeitschrift)
SECOND INTERIM ANALYSIS OF THE KUVAN (R) ADULT MATERNAL PAEDIATRIC EUROPEAN REGISTRY (KAMPER): PATIENT CHARACTERISTICS
Burlina, A; Trefz, FK; Belanger-Quintana, A; Muntau, AC; Lagler, FB; Feillet, F; Vincent, C; Alm, J
J INHERIT METAB DIS. 2012; 35: S43-S43.
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)
DISCOVERY OF NOVEL PHARMACOLOGICAL CHAPERONES FOR PKU THAT CORRECT PHENYLKETONURIA IN VIVO
Santos-Sierra, S; Kirchmair, J; Perna, A; Reiss, D; Kemter, K; Roeschinger, W; Glossmann, H; Gersting, S; Muntau, AC; Wolber, G; Lagler, FB
J INHERIT METAB DIS. 2012; 35: S3-S3.
Abstracts (Zeitschrift)
HOW USEFUL ARE CSF INVESTIGATIONS FOR MAKING A DIAGNOSIS IN CHILDREN WITH NEUROLOGIC SYMPTOMS?
Scholl-Burgi, S; Lagler, FB; Druck, C; Haberlandt, E; Baumann, M; Rostasy, K; Deisenhammer, F; Loacker, L; Albrecht, U; Karall, D
J INHERIT METAB DIS. 2012; 35: S170-S170.
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)

2011

Beiträge in Fachzeitschriften

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)
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)
MOLECULAR ANALYSIS OF GUANIDINOACETATE-N-METHYLTRANSFERASE (GAMT) AND CREATINE TRANSPORTER (SLC6A8) GENE BY USING DENATURING HIGH PRESSURE LIQUID CHROMATOGRAPHY (DHPLC) AS A POSSIBLE SOURCE OF HUMAN MALE INFERTILITY
Iqbal, F; Item, CB; Ratschmann, R; Ali, M; Plas, E; Bodamer, O
PAK J PHARM SCI. 2011; 24(1): 75-79.
Originalarbeiten (Zeitschrift)
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)
Analysis of glucocerebrosidase activity in dry blood spots using tandem mass spectrometry (vol 412, pg 343, 2011)
Legnini, E; Orsini, JJ; Hung, C; Martin, M; Showers, A; Scarpa, M; Zhang, XK; Keutzer, J; Muhl, A; Bodamer, OA
CLIN CHIM ACTA. 2011; 412(23-24): 2358-2358.
Korrekturen

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

THE KUVAN. ADULT MATERNAL PAEDIATRIC EUROPEAN REGISTRY (KAMPER): PATIENT CHARACTERISTICS
Lagler, MFB; Trefz, FK; Muntau, AC; Belanger-Quintana, A; Burlina, A; Feillet, F; Champigneulle, A; Alm, J
J INHERIT METAB DIS. 2011; 34: S108-S108.
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 KUVAN. ADULT MATERNAL PAEDIATRIC EUROPEAN REGISTRY (KAMPER): BASELINE DEMOGRAPHICS
Trefz, FK; Belanger-Quintana, A; Muntau, AC; Alm, J; Lagler, FB; Burlina, A; Vincent, C; Feillet, F
J INHERIT METAB DIS. 2011; 34: S107-S107.
Abstracts (Zeitschrift)

2010

Beiträge in Fachzeitschriften

Inborn errors of metabolism
Bodamer, O
MONATSSCHR KINDERH. 2010; 158(10): 987-994.
Originalarbeiten (Zeitschrift)
Laboratory and genetic evaluation of Gaucher disease.
Bodamer, OA; Hung, C;
Wien Med Wochenschr. 2010; 160(23-24): 600-604.
Übersichtsarbeiten
Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry.
Dajnoki, A; Fekete, G; Keutzer, J; Orsini, JJ; De Jesus, VR; Chien, YH; Hwu, WL; Lukacs, Z; Mühl, A; Zhang, XK; Bodamer, O;
CLIN CHIM ACTA. 2010; 411(19-20): 1428-1431.
Originalarbeiten (Zeitschrift)
Guidelines for the restart of imiglucerase in patients with Gaucher disease: Recommendations from the European Working Group on Gaucher disease
Hollak, CEM; Aerts, JMFG; Belmatoug, N; Bembi, B; Bodamer, O; Cappellini, D; Collin-Histed, T; Cox, T; Deegan, P; Giraldo, P; Hughes, D; Lukina, E; Manuel, J; Michelakakis, H; Di Rocco, M; Vellodi, A; Zimran, A
BLOOD CELL MOL DIS. 2010; 44(2): 86-87.
Letter
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)
Semi-quantitative method for determination of hematocrit in dried blood spots, using data collected in HPLC hemoglobin variant testing.
Orsini, JJ; Yeman, J; Caggana, M; Bodamer, OA; Mühl, A;
CLIN CHIM ACTA. 2010; 411(11-12): 894-895.
Letter