Detalhe da pesquisa
1.
Evaluating change in diet with pegvaliase treatment in adults with phenylketonuria: Analysis of phase 3 clinical trial data.
Mol Genet Metab
; 141(3): 108122, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38184920
2.
Long-term comparative effectiveness of pegvaliase versus medical nutrition therapy with and without sapropterin in adults with phenylketonuria.
Mol Genet Metab
; 141(1): 108114, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-38142628
3.
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.
Cytotherapy
; 2024 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38613540
4.
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
5.
The Genetic Landscape and Epidemiology of Phenylketonuria.
Am J Hum Genet
; 107(2): 234-250, 2020 08 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32668217
6.
Challenges and strategies for clinical trials in propionic and methylmalonic acidemias.
Mol Genet Metab
; 139(3): 107612, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37245378
7.
Newborn screening for mucopolysaccharidosis type II: Lessons learned.
Mol Genet Metab
; 140(1-2): 107557, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-36907694
8.
Triheptanoin for the treatment of long-chain fatty acid oxidation disorders: Final results of an open-label, long-term extension study.
J Inherit Metab Dis
; 46(5): 943-955, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37276053
9.
Left ventricular diastolic abnormalities in vegetarians compared with non-vegetarians.
Br J Nutr
; 130(3): 467-475, 2023 08 14.
Artigo
Inglês
| MEDLINE | ID: mdl-36261414
10.
First-in-human in vivo genome editing via AAV-zinc-finger nucleases for mucopolysaccharidosis I/II and hemophilia B.
Mol Ther
; 30(12): 3587-3600, 2022 12 07.
Artigo
Inglês
| MEDLINE | ID: mdl-36299240
11.
Sebelipase alfa in children and adults with lysosomal acid lipase deficiency: Final results of the ARISE study.
J Hepatol
; 76(3): 577-587, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34774639
12.
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Genet Med
; 24(10): 2065-2078, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35980381
13.
Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study.
Mol Genet Metab
; 137(1-2): 127-139, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36027721
14.
Findings from the Morquio A Registry Study (MARS) after 6 years: Long-term outcomes of MPS IVA patients treated with elosulfase alfa.
Mol Genet Metab
; 137(1-2): 164-172, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36087504
15.
Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II.
Mol Genet Metab
; 137(1-2): 92-103, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35961250
16.
Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach.
Mol Genet Metab
; 137(1-2): 114-126, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36027720
17.
Long-Term Sebelipase Alfa Treatment in Children and Adults With Lysosomal Acid Lipase Deficiency.
J Pediatr Gastroenterol Nutr
; 74(6): 757-764, 2022 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35442238
18.
Estimating the prevalence of Niemann-Pick disease type C (NPC) in the United States.
Mol Genet Metab
; 134(1-2): 182-187, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34304992
19.
Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease.
Mol Genet Metab
; 134(1-2): 53-59, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-33832819
20.
Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis.
Mol Genet Metab
; 132(2): 119-127, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33485801