[Late-onset presentation of carbamoyl phosphate synthetase 1 deficiency in a 6-year-old boy].
Gómez-López
L
L
Artuch
R
R
Vilaseca
M A
MA
Briones-Godino
P
P
Finckh
U
U
Pineda
M
M
D000293:Adolescent; D000328:Adult; D002222:Carbamoyl-Phosphate Synthase (Ammonia) / Q000378:metabolism; D020165:Carbamoyl-Phosphate Synthase I Deficiency Disease / Q000175:diagnosis* / Q000503:physiopathology* / Q000628:therapy; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D055815:Young Adult
D002222:Carbamoyl-Phosphate Synthase (Ammonia)