title: Prenatal diagnosis of 6-pyruvoyl tetrahydropterin synthase deficiency in seven subjects.
authors.affiliation: Department of Pediatrics, Osaka City University Medical School, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Shintaku
authors.forename: K J
authors.initials: KJ
authors.lastname: Hsiao
authors.forename: T T
authors.initials: TT
authors.lastname: Liu
authors.forename: T
authors.initials: T
authors.lastname: Imamura
authors.forename: Y
authors.initials: Y
authors.lastname: Hase
authors.forename: R G
authors.initials: RG
authors.lastname: Chen
authors.forename: G
authors.initials: G
authors.lastname: Isshiki
authors.forename: T
authors.initials: T
authors.lastname: Oura
mesh_terms: D000429:Alcohol Oxidoreductases / Q000172:deficiency*; D000653:Amniotic Fluid / Q000201:enzymology / Q000378:metabolism; D001208:Asia; D001708:Biopterins / Q000031:analogs & derivatives / Q000378:metabolism; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D019798:Neopterin; D019761:Phosphorus-Oxygen Lyases; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013624:Taiwan
chemical_list: D001708:Biopterins; D019798:Neopterin; D000429:Alcohol Oxidoreductases; D019761:Phosphorus-Oxygen Lyases; C043497:6-pyruvoyltetrahydropterin synthase