Carbamylphosphate synthetase-I deficiency in a newborn: survival after early diagnosis and therapy.
Raghavan
K
K
Department of Pediatrics, L.T.M.G.H., Sion, Bombay.
Chabra
S
S
Mondkar
J
J
Aiyar
R
R
Ambani
L M
LM
Fernandez
A
A
D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis* / Q000401:mortality / Q000628:therapy; D000641:Ammonia / Q000097:blood*; D002222:Carbamoyl-Phosphate Synthase (Ammonia) / Q000172:deficiency*; D003131:Combined Modality Therapy; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D013997:Time Factors
D000641:Ammonia; D002222:Carbamoyl-Phosphate Synthase (Ammonia)