title: Fumarase deficiency: a rare disorder on the crossroads of clinical and metabolic genetics, neurology and cancer.
authors.affiliation: aDepartment of Paediatrics, Isaac Walton Killam Health Centre, Dalhousie University, Halifax, Nova Scotia bMedical Genetics Program of Southwestern Ontario cDepartment of Pathology & Laboratory Medicine and Biochemistry, London Health Sciences Centre dDepartment of Paediatrics, London Health Sciences Centre, Western University eChildren's Health Research Institute, London, Ontario, Canada.
authors.forename: Charushree
authors.initials: C
authors.lastname: Prasad
authors.forename: Melanie P
authors.initials: MP
authors.lastname: Napier
authors.forename: Charles A
authors.initials: CA
authors.lastname: Rupar
authors.forename: Chitra
authors.initials: C
authors.lastname: Prasad
mesh_terms: D000483:Alleles; D002675:Child, Preschool; D004452:Echocardiography; D004734:Energy Metabolism / Q000235:genetics; D005260:Female; D005649:Fumarate Hydratase / Q000172:deficiency*; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D059785:Karyotype; D008279:Magnetic Resonance Imaging; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000209:etiology*; D009123:Muscle Hypotonia / Q000175:diagnosis* / Q000209:etiology*; D010375:Pedigree; D010641:Phenotype; D011596:Psychomotor Disorders / Q000175:diagnosis* / Q000209:etiology*; D063189:Symptom Assessment; D000073359:Exome Sequencing
chemical_list: D005649:Fumarate Hydratase