[Carbamyl phosphate synthetase I deficiency].
Hoshide
R
R
Department of Pediatrics, Miyazaki Prefectural Nobeoka Hospital.
D000592:Amino Acid Metabolism, Inborn Errors / Q000209:etiology / Q000503:physiopathology; D002222:Carbamoyl-Phosphate Synthase (Ammonia) / Q000172:deficiency* / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007231:Infant, Newborn; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011379:Prognosis
D002222:Carbamoyl-Phosphate Synthase (Ammonia)