Detalhe da pesquisa
1.
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
em Inglês
| MEDLINE | ID: mdl-38142628
2.
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
em Inglês
| MEDLINE | ID: mdl-38433424
3.
The Genetic Landscape and Epidemiology of Phenylketonuria.
Am J Hum Genet
; 107(2): 234-250, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32668217
4.
Newborn screening for mucopolysaccharidosis type II: Lessons learned.
Mol Genet Metab
; 140(1-2): 107557, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36907694
5.
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
em Inglês
| MEDLINE | ID: mdl-37276053
6.
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
em Inglês
| MEDLINE | ID: mdl-36299240
7.
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
em Inglês
| MEDLINE | ID: mdl-34774639
8.
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
em Inglês
| MEDLINE | ID: mdl-35980381
9.
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
em Inglês
| MEDLINE | ID: mdl-36027721
10.
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
em Inglês
| MEDLINE | ID: mdl-35961250
11.
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
em Inglês
| MEDLINE | ID: mdl-36087504
12.
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
em Inglês
| MEDLINE | ID: mdl-36027720
13.
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
em Inglês
| MEDLINE | ID: mdl-35442238
14.
Estimating the prevalence of Niemann-Pick disease type C (NPC) in the United States.
Mol Genet Metab
; 134(1-2): 182-187, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34304992
15.
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
em Inglês
| MEDLINE | ID: mdl-33485801
16.
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
em Inglês
| MEDLINE | ID: mdl-33832819
17.
Characterization of disease-specific chondroitin sulfate nonreducing end accumulation in mucopolysaccharidosis IVA.
Glycobiology
; 30(7): 433-445, 2020 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-31897472
18.
Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up.
Mol Genet Metab
; 130(4): 239-246, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32593547
19.
Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience.
J Pediatr
; 214: 165-167.e1, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31477379
20.
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency.
N Engl J Med
; 373(11): 1010-20, 2015 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-26352813