Ornithine carbamoyltransferase deficiency presenting with chorea in a female.
Wiltshire
E J
EJ
Department of Chemical Pathology, Women's and Children's Hospital, North Adelaide, Australia
Poplawski
N K
NK
Harbord
M G
MG
Harrison
R J
RJ
Fletcher
J M
JM
D000409:Alanine / Q000097:blood; D002819:Chorea / Q000097:blood / Q000201:enzymology* / Q000652:urine; D005260:Female; D005973:Glutamine / Q000097:blood; D006801:Humans; D007223:Infant; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D009963:Orotic Acid / Q000652:urine*; D014498:Uracil / Q000652:urine
D005973:Glutamine; D014498:Uracil; D009963:Orotic Acid; D000409:Alanine