The long-term evolution of a case of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency associated with deafness and retinitis pigmentosa.
Jones
K J
KJ
Department of Clinical Genetics, Royal Alexandra Hospital for Children, Sydney, Australia.
Wilcken
B
B
Kilham
H
H
D000293:Adolescent; D002478:Cells, Cultured; D003638:Deafness / Q000209:etiology*; D004032:Diet; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007003:Hypoglycemia / Q000209:etiology; D007652:Oxo-Acid-Lyases / Q000172:deficiency* / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000209:etiology*; D012640:Seizures / Q000209:etiology
D007652:Oxo-Acid-Lyases; C021410:3-hydroxy-3-methylglutaryl-coenzyme A lyase