title: N-acetylglutamate synthetase (NAGS) deficiency: diagnosis, clinical observations and treatment.
mesh_terms: D000123:Acetyltransferases / Q000172:deficiency*; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000628:therapy; D051046:Amino-Acid N-Acetyltransferase; D000641:Ammonia / Q000097:blood; D001706:Biopsy; D006801:Humans; D007231:Infant, Newborn; D008099:Liver / Q000201:enzymology*; D008297:Male; D014508:Urea / Q000096:biosynthesis*
chemical_list: D000641:Ammonia; D014508:Urea; D000123:Acetyltransferases; D051046:Amino-Acid N-Acetyltransferase; C494874:NAGS protein, human