title: Diagnosis of ornithine transcarbamylase deficiency secondary to p.Leu301Phe mutation in an adult patient.
authors.forename: N
authors.initials: N
authors.lastname: Morel
authors.forename: C
authors.initials: C
authors.lastname: Corne
authors.forename: C
authors.initials: C
authors.lastname: Aquaviva
authors.forename: G
authors.initials: G
authors.lastname: Besson
mesh_terms: D000328:Adult; D060666:Airway Extubation; D019943:Amino Acid Substitution; D000596:Amino Acids / Q000097:blood / Q000652:urine; D000641:Ammonia / Q000097:blood; D001642:Bicycling / Q000502:physiology; D042241:Early Diagnosis; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics* / Q000502:physiology; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000175:diagnosis* / Q000178:diet therapy / Q000235:genetics*; D011595:Psychomotor Agitation / Q000209:etiology; D012206:Rhabdomyolysis / Q000209:etiology
chemical_list: D000596:Amino Acids; D000641:Ammonia