Detalhe da pesquisa
1.
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.
Cell
; 140(1): 74-87, 2010 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-20074521
2.
Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.
Hum Mol Genet
; 31(21): 3597-3612, 2022 10 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35147173
3.
Hypoglycemia Associated With PEG-asparaginase and 6-MP Therapy During Treatment of Acute Lymphoblastic Leukemia in Pediatric Patients: A Case Series.
J Pediatr Hematol Oncol
; 46(2): e121-e126, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38411659
4.
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
5.
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.
N Engl J Med
; 380(15): 1433-1441, 2019 04 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30970188
6.
Enantiomer-specific pharmacokinetics of D,L-3-hydroxybutyrate: Implications for the treatment of multiple acyl-CoA dehydrogenase deficiency.
J Inherit Metab Dis
; 44(4): 926-938, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33543789
7.
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.
Genet Med
; 22(5): 908-916, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31904027
8.
Carnitine uptake defect due to a 5'UTR mutation in a pedigree with false positives and false negatives on Newborn screening.
Mol Genet Metab
; 129(3): 213-218, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31864849
9.
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.
J Inherit Metab Dis
; 43(6): 1321-1332, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32588908
10.
Direct Health Care Costs, Health Services Utilization, and Outcomes of Biliary Atresia: A Population-based Cohort Study.
J Pediatr Gastroenterol Nutr
; 70(4): 436-443, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31834111
11.
Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease.
Hum Mutat
; 40(8): 1084-1100, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31228227
12.
Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians.
Can J Neurol Sci
; 46(6): 717-726, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31387656
13.
Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling.
Mol Genet Metab
; 123(3): 309-316, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29269105
14.
Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.
Am J Med Genet A
; 176(5): 1115-1127, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29575569
15.
Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability.
Hum Mol Genet
; 24(22): 6293-300, 2015 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26307080
16.
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Hum Mol Genet
; 23(10): 2752-68, 2014 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24381304
17.
Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.
Mol Genet Metab
; 119(1-2): 44-9, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27477828
18.
Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications.
Am J Med Genet A
; 170A(4): 967-77, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26692240
19.
The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.
J Med Genet
; 52(7): 431-7, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25951830
20.
Prediction of congenital hypothyroidism based on initial screening thyroid-stimulating-hormone.
BMC Pediatr
; 16: 24, 2016 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26839208