title: [Detection, differential diagnosis, and prenatal diagnosis of tetrahydrobiopterin deficiency].
mesh_terms: D000429:Alcohol Oxidoreductases / Q000172:deficiency; D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood* / Q000134:cerebrospinal fluid / Q000652:urine; D001708:Biopterins / Q000031:analogs & derivatives* / Q000172:deficiency / Q000652:urine; D003937:Diagnosis, Differential; D005260:Female; D006160:Guanosine Triphosphate / Q000172:deficiency; D006719:Homovanillic Acid / Q000032:analysis; D006801:Humans; D006897:Hydroxyindoleacetic Acid / Q000032:analysis; D010649:Phenylalanine / Q000097:blood* / Q000652:urine; D019761:Phosphorus-Oxygen Lyases; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D001708:Biopterins; D010649:Phenylalanine; D006897:Hydroxyindoleacetic Acid; D006160:Guanosine Triphosphate; D000429:Alcohol Oxidoreductases; D019761:Phosphorus-Oxygen Lyases; C043497:6-pyruvoyltetrahydropterin synthase; C003402:sapropterin; D006719:Homovanillic Acid
vernacular_title: Détection, diagnostic différentiel, et diagnostic prénatal du déficit en tétrahydrobioptérine.