Detalhe da pesquisa
1.
Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries.
J Inherit Metab Dis
; 2024 Mar 03.
Artigo
Inglês
| MEDLINE | ID: mdl-38433424
2.
Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor.
Blood
; 136(9): 1033-1043, 2020 08 27.
Artigo
Inglês
| MEDLINE | ID: mdl-32294159
3.
Current knowledge, challenges and innovations in developmental pharmacology: A combined conect4children Expert Group and European Society for Developmental, Perinatal and Paediatric Pharmacology White Paper.
Br J Clin Pharmacol
; 88(12): 4965-4984, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34180088
4.
[Home infusion therapy for Pompe disease: Recommendations for German-speaking countries]. / Heiminfusionstherapie bei Morbus Pompe: Konsensusempfehlungen für den deutschsprachigen Raum.
Fortschr Neurol Psychiatr
; 2021 Apr 27.
Artigo
Alemão
| MEDLINE | ID: mdl-33906241
5.
[Home infusion therapy for Pompe disease: Recommendations for German-speaking countries]. / Heiminfusionstherapie bei Morbus Pompe: Konsensusempfehlungen für den deutschsprachigen Raum.
Fortschr Neurol Psychiatr
; 89(12): 630-636, 2021 Dec.
Artigo
Alemão
| MEDLINE | ID: mdl-33561874
6.
Current and Emerging Therapies for Mucopolysaccharidoses.
Handb Exp Pharmacol
; 261: 39-56, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-31451968
7.
Current and Emerging Therapies for Mitochondriopathies.
Handb Exp Pharmacol
; 261: 57-65, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-31628601
8.
International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria.
Mol Genet Metab
; 127(1): 1-11, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31103398
9.
Diacerein orphan drug development for epidermolysis bullosa simplex: A phase 2/3 randomized, placebo-controlled, double-blind clinical trial.
J Am Acad Dermatol
; 78(5): 892-901.e7, 2018 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29410318
10.
A survey of medicine use in children and adolescents in Austria.
Eur J Pediatr
; 177(10): 1479-1487, 2018 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-29978258
11.
[Lysosomal Storage Diseases: Challenges in Multiprofessional Patient Care with Enzyme Replacement Therapy]. / Lysosomale Speichererkrankungen: Herausforderungen bei der sektorübergreifenden, multiprofessionellen Patientenversorgung mit Enzymersatztherapie.
Klin Padiatr
; 229(3): 168-174, 2017 May.
Artigo
Alemão
| MEDLINE | ID: mdl-28464188
12.
Novel pharmacological chaperones that correct phenylketonuria in mice.
Hum Mol Genet
; 21(8): 1877-87, 2012 Apr 15.
Artigo
Inglês
| MEDLINE | ID: mdl-22246293
13.
Enduring and emerging challenges of informed consent.
N Engl J Med
; 372(22): 2170-1, 2015 05 28.
Artigo
Inglês
| MEDLINE | ID: mdl-26017841
14.
Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.
J Inherit Metab Dis
; 36(1): 7-13, 2013 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-22526846
15.
Individual Treatment Trials-Do Experts Know and Use This Option to Improve the Treatability of Mucopolysaccharidosis?
Pharmaceuticals (Basel)
; 16(3)2023 Mar 09.
Artigo
Inglês
| MEDLINE | ID: mdl-36986515
16.
An artificial intelligence-based approach for identifying rare disease patients using retrospective electronic health records applied for Pompe disease.
Front Neurol
; 14: 1108222, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37153672
17.
RETRACTED: Wiesinger et al. An Innovative Tool for Evidence-Based, Personalized Treatment Trials in Mucopolysaccharidosis. Pharmaceutics 2023, 15, 1565.
Pharmaceutics
; 15(11)2023 Nov 07.
Artigo
Inglês
| MEDLINE | ID: mdl-38004626
18.
An Innovative Tool for Evidence-Based, Personalized Treatment Trials in Mucopolysaccharidosis.
Pharmaceutics
; 15(5)2023 May 22.
Artigo
Inglês
| MEDLINE | ID: mdl-37242808
19.
Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo.
Hum Mol Genet
; 19(10): 2039-49, 2010 May 15.
Artigo
Inglês
| MEDLINE | ID: mdl-20179079
20.
The Inflammation in the Cytopathology of Patients With Mucopolysaccharidoses- Immunomodulatory Drugs as an Approach to Therapy.
Front Pharmacol
; 13: 863667, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35645812