Ornithine carbamoyltransferase deficiency: unusual clinical findings and novel mutation.
Shih
V E
VE
Neurology Service, Massachusetts General Hospital, Boston 02129, USA. vshih@partners.org
Safran
A P
AP
Ropper
A H
AH
Tuchman
M
M
D000328:Adult; D000641:Ammonia / Q000097:blood; D001927:Brain Diseases / Q000097:blood / Q000201:enzymology* / Q000235:genetics / Q000503:physiopathology; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D009954:Ornithine Carbamoyltransferase / Q000235:genetics; D020163:Ornithine Carbamoyltransferase Deficiency Disease
D000641:Ammonia; D009954:Ornithine Carbamoyltransferase