[Hyperammonemia: partial carbamyl phosphate synthetase deficiency].
D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology; D000641:Ammonia / Q000097:blood*; D002223:Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing) / Q000172:deficiency*; D006801:Humans; D007231:Infant, Newborn; D008025:Ligases / Q000172:deficiency*; D008297:Male
D000641:Ammonia; D008025:Ligases; D002223:Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing)
Hyperammonaemia: részleges karbamil-foszfát szintetáze hiány.