[Carbamoyl phosphate synthetase I deficiency].
Hoshide
Ryuuji
R
Department of Pediatrics, Kumamoto Red Cross Hospital.
D020165:Carbamoyl-Phosphate Synthase I Deficiency Disease / Q000175:diagnosis / Q000628:therapy; D003937:Diagnosis, Differential; D006801:Humans; D022124:Hyperammonemia / Q000209:etiology; D007223:Infant; D007231:Infant, Newborn; D025202:Molecular Diagnostic Techniques; D011296:Prenatal Diagnosis; D011379:Prognosis