title: [3 beta-hydroxy-delta 5-C27-steroid-oxidoreductase/isomerase deficiency].
authors.affiliation: Department of Surgery 1, Miyazaki Medical College.
authors.forename: R
authors.initials: R
authors.lastname: Kamimura
authors.forename: Y
authors.initials: Y
authors.lastname: Maeda
authors.forename: T
authors.initials: T
authors.lastname: Setoguchi
mesh_terms: D015096:3-Hydroxysteroid Dehydrogenases / Q000172:deficiency*; D001647:Bile Acids and Salts / Q000652:urine; D015415:Biomarkers / Q000652:urine; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000209:etiology; D011379:Prognosis; D013251:Steroid Isomerases / Q000172:deficiency*
chemical_list: D001647:Bile Acids and Salts; D015415:Biomarkers; D015096:3-Hydroxysteroid Dehydrogenases; C066485:3 beta-hydroxy-delta 5-C(27)-steroid dehydrogenase; D013251:Steroid Isomerases; C022660:steroid delta-isomerase