Detalhe da pesquisa
1.
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
2.
Epidermodysplasia verruciformis in lipoid proteinosis: case report and discussion of pathophysiology.
Pediatr Dermatol
; 32(1): 118-21, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-23534907
3.
Developing Research-Informed Guidance on Preparing Pharmacy Students to Care for Diverse Populations.
Am J Pharm Educ
; 87(7): 100095, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37380279
4.
Recommendations for the use of sapropterin in phenylketonuria.
Mol Genet Metab
; 106(3): 269-76, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22575621
5.
Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome.
Am J Med Genet A
; 158A(1): 182-7, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22106044
6.
Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening.
Mol Genet Metab
; 100(4): 333-8, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20547083
7.
Exploring patient demographic and clinical characteristics associated with lipid-lowering pharmacotherapy use in primary care.
Clin Invest Med
; 30(2): E63-9, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17716543
8.
Hypogonadotropic Hypogonadism in Males with Glycogen Storage Disease Type 1.
JIMD Rep
; 36: 79-84, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28160246
9.
Genotype and phenotype spectrum of NRAS germline variants.
Eur J Hum Genet
; 25(7): 823-831, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28594414
10.
Experiences of caregivers of children with inherited metabolic diseases: a qualitative study.
Orphanet J Rare Dis
; 11(1): 168, 2016 12 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27927250
11.
Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada.
JIMD Rep
; 21: 15-22, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25716610
12.
The BC Community Pharmacy Asthma Study: A study of clinical, economic and holistic outcomes influenced by an asthma care protocol provided by specially trained community pharmacists in British Columbia.
Can Respir J
; 10(4): 195-202, 2003.
Artigo
em Inglês
| MEDLINE | ID: mdl-12851665
13.
Phalangeal hypoplasia, mental retardation, agenesis of the corpus callosum, brainstem abnormalities and ectopic grey matter: unique case or newly recognized syndrome?
Clin Dysmorphol
; 18(3): 160-163, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19451812