Detalhe da pesquisa
1.
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.
Hum Mol Genet
; 33(4): 355-373, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37944084
2.
Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG).
J Med Genet
; 60(6): 523-532, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36822643
3.
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
BMC Pediatr
; 24(1): 37, 2024 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38216926
4.
Ethical and practical considerations related to data sharing when collecting patient-reported outcomes in care-based child health research.
Qual Life Res
; 32(8): 2319-2328, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37002464
5.
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
6.
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
7.
Ultrasound findings of finger, wrist and knee joints in Mucopolysaccharidosis Type I.
Mol Genet Metab
; 133(3): 289-296, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34090760
8.
Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders.
Mol Genet Metab
; 132(1): 19-26, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33388234
9.
New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches.
J Inherit Metab Dis
; 44(4): 903-915, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33634872
10.
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.
Am J Hum Genet
; 100(5): 773-788, 2017 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28475860
11.
Liver transplantation for Gaucher disease presenting as neonatal cholestasis: Case report and literature review.
Pediatr Transplant
; 24(4): e13718, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32324335
12.
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Genet Med
; 20(4): 435-443, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28771251
13.
Corrigendum to "Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II".
Mol Genet Metab
; 140(3): 107646, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37517985
14.
Corrigendum to: Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study.
Mol Genet Metab
; 140(3): 107645, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37541906
15.
Mitochondrial POLG related disorder presenting prenatally with fetal cerebellar growth arrest.
Metab Brain Dis
; 33(4): 1369-1373, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29574624
16.
Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy.
Metab Brain Dis
; 32(2): 443-451, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27882480
17.
Ataxia and confusion in a 10-year-old girl.
Paediatr Child Health
; 26(3): 137-138, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33936329
18.
Management and Outcomes of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD Deficiency): A Retrospective Chart Review.
Int J Neonatal Screen
; 10(2)2024 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38651394
19.
Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: diagnostic and management issues.
Am J Med Genet A
; 161A(1): 13-20, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23239666
20.
An unusually mild case of biotin-thiamine-responsive basal ganglia disease.
Mol Genet Metab Rep
; 37: 101004, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38053933