Congenital fumarase deficiency presenting with hypotonia and areflexia.
Narayanan
V
V
University of Pittsburgh, Children's Hospital of Pittsburgh, WHY-NMD Neuromuscular Institute, Pennsylvania, USA.
Diven
W
W
Ahdab-Barmada
M
M
D001928:Brain Diseases, Metabolic / Q000175:diagnosis / Q000201:enzymology*; D002952:Citric Acid Cycle / Q000235:genetics; D002658:Developmental Disabilities / Q000201:enzymology / Q000209:etiology; D005183:Failure to Thrive / Q000201:enzymology / Q000209:etiology; D005649:Fumarate Hydratase / Q000032:analysis / Q000172:deficiency*; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis / Q000201:enzymology* / Q000209:etiology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000201:enzymology; D009123:Muscle Hypotonia / Q000201:enzymology / Q000209:etiology; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D012026:Reflex, Stretch
D005649:Fumarate Hydratase