[Fumarase deficiency].
Miyabayashi
S
S
Department of Pediatrics, Tohoku University School of Medicine.
D001284:Atrophy / Q000209:etiology; D015415:Biomarkers / Q000652:urine; D001921:Brain / Q000473:pathology; D003593:Cytoplasm / Q000201:enzymology; D003937:Diagnosis, Differential; D005649:Fumarate Hydratase / Q000172:deficiency* / Q000235:genetics; D005650:Fumarates / Q000652:urine; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000209:etiology / Q000503:physiopathology; D008928:Mitochondria / Q000201:enzymology; D009154:Mutation; D011379:Prognosis
D015415:Biomarkers; D005650:Fumarates; C032005:fumaric acid; D005649:Fumarate Hydratase