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Forschungsdatenbank PMU-SQQUID

LAGLER FLORIAN
Universitätsklinik für Kinder- und Jugendheilkunde
Universitätsinstitut für angeborene Stoffwechselerkrankungen

Publikationen | Forscherprofil

74 Publikationen

2019

Beiträge in Fachzeitschriften

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)

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
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)
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

[Lysosomal Storage Diseases: Challenges in Multiprofessional Patient Care with Enzyme Replacement Therapy].
Das, AM; Lagler, F; Beck, M; Scarpa, M; Lampe, C;
Klin Padiatr. 2017; 229(3): 168-174.
Originalarbeiten (Zeitschrift)
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)
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)
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)

Nichtpublizierte (nicht zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

Innovative Therapien lysosomaler Speichererkrankungen
Lagler, F
OKIDS EUPATI Kongress; 15.11.2017; Wien. 2017.
Verlaufskontrolle MPS
Lagler, F
MPS Konferenz; 14.07.-16.07.2017; Maria Alm, Salzburg. 2017.
Diagnose und Therapie lysosomaler Speichererkrankungen
Lagler, F
Austrian-Swiss-metabolic Meeting; 27.4.2017; Wien. 2017.
Notfall - Informationssytem Seltene Krankheiten
Lagler, F
Kärntner Notfalltage; 12.-14.4.2017; Hafnersee, Kärnten. 2017.
Interdisziplinäres interprofessionelles Simulationstraining für Notfälle bei Mucopolysaccharidosen
Lagler, F
Abschieds-Symposium Dr. Föller, Fa. Shire; 19.-20.7.2017; Wien. 2017.
Notfalls-und Simulationsprogramm an der UK für Kinder- und Jugendheilkunde der PMU
Lagler, F
ÖGKJ; 21.-23.09.2017; Graz. 2017.
Simulationstraining für Notfälle bei MPS
Lagler, F
Simulationstraining für Notfälle bei MPS; 9.2.2017; Wien. 2017.
Morbus Fabry
Lagler, F
Elaprase Jubiläums Meeting; 27.1.2017; Wien. 2017.
Behandlung von lysosomalen Speichererkrankungen
Lagler, F
MPS HNO Salzburg; 17.1.2017; Salzburg. 2017.
Simulation Training (Videopräsentation)
Lagler, F
FOS ENT World Congress Shire Symposium ; 26.06.2017; Paris. 2017.

2016

Beiträge in Fachzeitschriften

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)

Nichtpublizierte (nicht zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

Between paediatrics and a patient association representative. Generation R Project: Presentation on paediatric trials and importance of involving children
Lagler, FB
Partnership in Clinical Trials Europe; 16.11.2016; Wien. 2016.
MPS Patient Safety Simulation Training
Lagler, FB
Preceptorship Programme Mucopolysaccharidoses; 8.11.2016; Salzburg. 2016.
Mucopolysaccharidosis Type 2 – Hunters disease
Lagler, FB
Elaprase Launching Symposium, Dammam Hospital; 26. Oktober 2016; Riyadh. 2016.
Screening and Diagnosis in MPS
Lagler, FB
European Symposium on Lysosomal Disorders 2016 (ESLSD); 8. Oktober 2016; Wien. 2016.
Infusion Reactions in MPS
Lagler, FB
Mucopolysaccharidosis Master Class for Genetic Counselors and Nurse Practitioners; 1. Oktober 2016; Oakland/Berkeley. 2016.
MPS2, eine relevante Differentialdiagnose in der HNO-Praxis
Lagler, FB
60. Österreichischer HNO-Kongress; 14. September 2016; Villach. 2016.
Morbus Gaucher–Diagnostik und Therapie
Lagler, FB
Sommerakademie der Österreichischen Apothekerkammer; 25. Juni 2016; Pörtschach. 2016.
MPS Patient Safety Simulation Training
Lagler, FB
Preceptorship Programme Mucopolysaccharidoses; 14. Juni 2016; Salzburg. 2016.
Mukopolysaccharidosen–Was Sie wissen sollten!
Lagler, FB
Fortbildungsveranstaltung, UK für Neurologie, PMU; 31. Mai 2016; Salzburg. 2016.
Pädiatrische klinische Forschung in Europa - Österreich
Lagler, FB
D-A-CH Symposium für Klinische Prüfungen; 7. März 2016; Freiburg. 2016.
MPS 1 – attenuierte Form
Lagler, FB
MPS1 und M. Pompe Expertenmeeting; 25. Februar 2016; Salzburg. 2016.
Interprofessionelles Simulationstraining für Betreuer von Patienten mit Mukopolysaccharidosen
Lagler, FB
Colloquium Neurologicum; 20. Februar 2016; Salzburg. 2016.

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

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

The effect of idursulfase on growth in patients with Hunter syndrome: data from the Hunter Outcome Survey (HOS).
Jones, SA; Parini, R; Harmatz, P; Giugliani, R; Fang, J; Mendelsohn, NJ;
Mol Genet Metab. 2013; 109(1):41-48
Originalarbeiten (Zeitschrift)
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

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

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)
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

Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo.
Gersting, SW; Lagler, FB; Eichinger, A; Kemter, KF; Danecka, MK; Messing, DD; Staudigl, M; Domdey, KA; Zsifkovits, C; Fingerhut, R; Glossmann, H; Roscher, AA; Muntau, AC;
Hum Mol Genet. 2010; 19(10):2039-2049
Originalarbeiten (Zeitschrift)
New insights into tetrahydrobiopterin pharmacodynamics from Pah enu1/2, a mouse model for compound heterozygous tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Lagler, FB; Gersting, SW; Zsifkovits, C; Steinbacher, A; Eichinger, A; Danecka, MK; Staudigl, M; Fingerhut, R; Glossmann, H; Muntau, AC;
Biochem Pharmacol. 2010; 80(10): 1563-1571.
Originalarbeiten (Zeitschrift)
Changes in plasma amino acid concentrations with increasing age in patients with propionic acidemia.
Scholl-Bürgi, S; Sass, JO; Heinz-Erian, P; Amann, E; Haberlandt, E; Albrecht, U; Ertl, C; Sigl, SB; Lagler, F; Rostasy, K; Karall, D;
Amino Acids. 2010; 38(5):1473-1481
Originalarbeiten (Zeitschrift)

2009

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

A MOUSE MODEL FOR BH4-RESPONSIVE PKU: UNDERSTANDING THE MOLECULAR MODE OF ACTION OF PHARMACOLOGICAL CHAPERONES
Gersting, SW; Lagler, FB; Eichinger, A; Kemter, KF; Danecka, MK; Messing, DD; Staudigl, M; Domdey, K; Fingerhut, R; Glossmann, H; Roscher, AA; Muntau, AC
MOL GENET METAB. 2009; 98(1-2): 31-31.
Abstracts (Zeitschrift)
GENOTYPE-SPECIFIC BH4 RESPONSE IN PKU MICE AND ITS IMPACT TO OPTIMIZE TREATMENT EFFICACY
Lagler, FB; Zsifkovits, C; Gersting, SW; Fingerhut, R; Glossmann, H; Muntau, AC
MOL GENET METAB. 2009; 98(1-2): 37-37.
Abstracts (Zeitschrift)