title: An infant with 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase/isomerase deficiency presenting with typical neonatal hepatitis syndrome: the first Japanese case.
authors.affiliation: Division of Pediatrics, Gifu Kouseiren Gihoku General Hospital, Japan. terasawa@ko.road.ne.jp
authors.forename: S
authors.initials: S
authors.lastname: Terazawa
authors.forename: A
authors.initials: A
authors.lastname: Kimura
authors.forename: T
authors.initials: T
authors.lastname: Inoue
authors.forename: T
authors.initials: T
authors.lastname: Murai
authors.forename: T
authors.initials: T
authors.lastname: Kurosawa
authors.forename: A
authors.initials: A
authors.lastname: Takao
mesh_terms: D001647:Bile Acids and Salts / Q000032:analysis; D006505:Hepatitis / Q000175:diagnosis / Q000209:etiology; D006801:Humans; D007223:Infant; D007564:Japan; D008111:Liver Function Tests; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D009097:Multienzyme Complexes / Q000172:deficiency*; D011375:Progesterone Reductase / Q000172:deficiency*; D013251:Steroid Isomerases / Q000172:deficiency*
chemical_list: C021425:3 beta-hydroxysteroid oxidoreductase-delta(5) 3-ketosteroid isomerase; D001647:Bile Acids and Salts; D009097:Multienzyme Complexes; D011375:Progesterone Reductase; D013251:Steroid Isomerases