title: [Late-onset presentation of carbamoyl phosphate synthetase 1 deficiency in a 6-year-old boy].
authors.forename: L
authors.initials: L
authors.lastname: Gómez-López
authors.forename: R
authors.initials: R
authors.lastname: Artuch
authors.forename: M A
authors.initials: MA
authors.lastname: Vilaseca
authors.forename: P
authors.initials: P
authors.lastname: Briones-Godino
authors.forename: U
authors.initials: U
authors.lastname: Finckh
authors.forename: M
authors.initials: M
authors.lastname: Pineda
mesh_terms: D000293:Adolescent; D000328:Adult; D002222:Carbamoyl-Phosphate Synthase (Ammonia) / Q000378:metabolism; D020165:Carbamoyl-Phosphate Synthase I Deficiency Disease / Q000175:diagnosis* / Q000503:physiopathology* / Q000628:therapy; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D055815:Young Adult
chemical_list: D002222:Carbamoyl-Phosphate Synthase (Ammonia)