title: [27-Hydroxylase deficiency (cerebrotendinous xanthomatosis)].
authors.affiliation: Department of Surgery 1, Miyazaki Medical College.
authors.forename: K
authors.initials: K
authors.lastname: Miyamoto
authors.forename: T
authors.initials: T
authors.lastname: Setoguchi
mesh_terms: D001647:Bile Acids and Salts / Q000096:biosynthesis; D053493:Cholestanetriol 26-Monooxygenase; D002784:Cholesterol / Q000378:metabolism; D003577:Cytochrome P-450 Enzyme System / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D017354:Point Mutation; D013250:Steroid Hydroxylases / Q000172:deficiency* / Q000235:genetics; D019294:Xanthomatosis, Cerebrotendinous / Q000209:etiology / Q000503:physiopathology
chemical_list: D001647:Bile Acids and Salts; D003577:Cytochrome P-450 Enzyme System; D002784:Cholesterol; D013250:Steroid Hydroxylases; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase