Search details
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.
Article
in English
| MEDLINE | ID: mdl-38216926
2.
Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics.
Am J Med Genet A
; 191(2): 510-517, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36401557
3.
Genomics in Cerebral Palsy phenotype across the lifespan: Comparison of diagnostic yield between children and adult population.
Mol Genet Metab
; 137(4): 420-427, 2022 Dec.
Article
in English
| MEDLINE | ID: mdl-34364746
4.
Kidney disease and organ transplantation in methylmalonic acidaemia.
Pediatr Transplant
; 23(4): e13407, 2019 06.
Article
in English
| MEDLINE | ID: mdl-30973671
5.
Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians.
Can J Neurol Sci
; 46(6): 717-726, 2019 11.
Article
in English
| MEDLINE | ID: mdl-31387656
6.
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.
Article
in English
| MEDLINE | ID: mdl-28771251
7.
Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II.
Mol Genet Metab
; 120(3): 235-242, 2017 03.
Article
in English
| MEDLINE | ID: mdl-28122681
8.
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.
Article
in English
| MEDLINE | ID: mdl-26209272
9.
Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy.
Genet Med
; 17(5): 365-73, 2015 May.
Article
in English
| MEDLINE | ID: mdl-25232857
10.
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
Epilepsia
; 56(5): 707-16, 2015 May.
Article
in English
| MEDLINE | ID: mdl-25818041
11.
Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease.
BMC Pediatr
; 15: 7, 2015 Feb 13.
Article
in English
| MEDLINE | ID: mdl-25886474
12.
The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada.
Mol Genet Metab
; 113(3): 171-6, 2014 Nov.
Article
in English
| MEDLINE | ID: mdl-25266922
13.
Achieving the "triple aim" for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework.
Genet Med
; 15(6): 415-22, 2013 Jun.
Article
in English
| MEDLINE | ID: mdl-23222662
14.
Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations.
Mol Genet Metab
; 108(1): 40-50, 2013 Jan.
Article
in English
| MEDLINE | ID: mdl-23266196
15.
XY sex reversal, pontocerebellar hypoplasia and intellectual disability: confirmation of a new syndrome.
Am J Med Genet A
; 161A(7): 1714-7, 2013 Jul.
Article
in English
| MEDLINE | ID: mdl-23686794
16.
Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey.
Patient
; 15(2): 171-185, 2022 03.
Article
in English
| MEDLINE | ID: mdl-34282509
17.
Families' healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study.
BMJ Open
; 12(2): e055664, 2022 Feb 22.
Article
in English
| MEDLINE | ID: mdl-35193919
18.
Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported?
Mol Genet Metab
; 104(1-2): 107-11, 2011.
Article
in English
| MEDLINE | ID: mdl-21802329
19.
Brain-lung-thyroid syndrome in a neonate with argininosuccinate lyase deficiency.
BMJ Case Rep
; 14(3)2021 Mar 31.
Article
in English
| MEDLINE | ID: mdl-33789861
20.
Outcomes of patients with cobalamin C deficiency: A single center experience.
JIMD Rep
; 57(1): 102-114, 2021 Jan.
Article
in English
| MEDLINE | ID: mdl-33473346