Home
Scholarly Works
Fumarase deficiency
Journal article
Fumarase deficiency
Authors
Prasad C; Napier MP; Rupar CA; Prasad C
Journal
Clinical Dysmorphology, Vol. 26, No. 2, pp. 117–120
Publisher
Wolters Kluwer
Publication Date
April 1, 2017
DOI
10.1097/mcd.0000000000000148
ISSN
0962-8827
Associated Experts
Charushree Prasad
Assistant Professor, Faculty of Health Sciences
Visit profile
Labels
Fields of Research (FoR)
32 Biomedical and Clinical Sciences
3202 Clinical sciences
Medical Subject Headings (MeSH)
Alleles
Child, Preschool
Echocardiography
Energy Metabolism
Female
Fumarate Hydratase
Genotype
Humans
In Situ Hybridization, Fluorescence
Karyotype
Magnetic Resonance Imaging
Metabolism, Inborn Errors
Muscle Hypotonia
Pedigree
Phenotype
Psychomotor Disorders
Symptom Assessment
Exome Sequencing
View published work (Non-McMaster Users)
View published work (McMaster Users)
Scholarly citations from Dimensions
Contact the Experts team
Get technical help
or
Provide website feedback
