Detalhe da pesquisa
1.
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
Inglês
| MEDLINE | ID: mdl-38216926
2.
3-Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC-MS/MS method.
J Inherit Metab Dis
; 45(3): 445-455, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35174513
3.
Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype.
Proc Natl Acad Sci U S A
; 116(20): 9865-9870, 2019 05 14.
Artigo
Inglês
| MEDLINE | ID: mdl-31036665
4.
PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only.
Am J Med Genet A
; 185(10): 2959-2975, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34117828
5.
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.
Am J Hum Genet
; 101(2): 206-217, 2017 Aug 03.
Artigo
Inglês
| MEDLINE | ID: mdl-28735859
6.
MITO-FIND: A study in 390 patients to determine a diagnostic strategy for mitochondrial disease.
Mol Genet Metab
; 131(1-2): 66-82, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32980267
7.
Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians.
Can J Neurol Sci
; 46(6): 717-726, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31387656
8.
A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population.
Am J Med Genet A
; 173(3): 596-600, 2017 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-27671926
9.
Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups.
J Inherit Metab Dis
; 39(1): 139-47, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-26209272
10.
Vitamin B12 Deficiency in Infancy: The Case for Screening.
Pediatr Blood Cancer
; 63(4): 740-2, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26806811
11.
Expanding the Molecular and Clinical Phenotype of SSR4-CDG.
Hum Mutat
; 36(11): 1048-51, 2015 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-26264460
12.
Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study.
Am J Med Genet A
; 167A(10): 2272-81, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-26069231
13.
Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease.
BMC Pediatr
; 15: 7, 2015 Feb 13.
Artigo
Inglês
| MEDLINE | ID: mdl-25886474
14.
Response to correspondence of NDUFS4-related Leigh syndrome in Hutterites.
Am J Med Genet A
; 173(5): 1452, 2017 May.
Artigo
Inglês
| MEDLINE | ID: mdl-28371264
15.
Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey.
Patient
; 15(2): 171-185, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34282509
16.
Families' healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study.
BMJ Open
; 12(2): e055664, 2022 Feb 22.
Artigo
Inglês
| MEDLINE | ID: mdl-35193919
17.
Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys.
Trials
; 22(1): 816, 2021 Nov 17.
Artigo
Inglês
| MEDLINE | ID: mdl-34789302
18.
Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria.
Pediatrics
; 148(2)2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34266901
19.
Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network.
Orphanet J Rare Dis
; 15(1): 89, 2020 04 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32276663
20.
Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review.
Orphanet J Rare Dis
; 15(1): 12, 2020 01 14.
Artigo
Inglês
| MEDLINE | ID: mdl-31937333