title: 3beta-hydroxy-delta5-C27-steroid dehydrogenase/isomerase deficiency in a 23-year-old woman.
authors.affiliation: Department of Pediatrics, Wakayama Medical College, Wakayama City, Japan. kobayashi@mail.wakayama-med.ac.jp
authors.forename: M
authors.initials: M
authors.lastname: Kobayashi
authors.forename: M
authors.initials: M
authors.lastname: Koike
authors.forename: M
authors.initials: M
authors.lastname: Sakiyama
authors.forename: S
authors.initials: S
authors.lastname: Okuda
authors.forename: M
authors.initials: M
authors.lastname: Okuda
authors.forename: T
authors.initials: T
authors.lastname: Tanaka
authors.forename: A
authors.initials: A
authors.lastname: Unno
authors.forename: H
authors.initials: H
authors.lastname: Nittono
authors.forename: H
authors.initials: H
authors.lastname: Takei
authors.forename: T
authors.initials: T
authors.lastname: Murai
authors.forename: T
authors.initials: T
authors.lastname: Yoshimura
authors.forename: T
authors.initials: T
authors.lastname: Kurosawa
mesh_terms: D015096:3-Hydroxysteroid Dehydrogenases / Q000172:deficiency*; D000328:Adult; D002635:Chenodeoxycholic Acid / Q000627:therapeutic use; D019826:Cholic Acid / Q000627:therapeutic use; D005260:Female; D006801:Humans; D008099:Liver / Q000473:pathology; D008103:Liver Cirrhosis / Q000175:diagnosis / Q000209:etiology*; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy; D013251:Steroid Isomerases / Q000172:deficiency; D014580:Ursodeoxycholic Acid / Q000627:therapeutic use; D014813:Vitamin K Deficiency / Q000175:diagnosis
chemical_list: D002635:Chenodeoxycholic Acid; D014580:Ursodeoxycholic Acid; D015096:3-Hydroxysteroid Dehydrogenases; D013251:Steroid Isomerases; D019826:Cholic Acid