title: [Cerebrotendinous xanthomatosis].
authors.affiliation: Department of Physiological Chemistry and Metabolism, Graduate School of Medicine, University of Tokyo.
authors.forename: K
authors.initials: K
authors.lastname: Inoue
authors.forename: S
authors.initials: S
authors.lastname: Kubota
authors.forename: Y
authors.initials: Y
authors.lastname: Seyama
mesh_terms: D000818:Animals; D002635:Chenodeoxycholic Acid / Q000627:therapeutic use; D053493:Cholestanetriol 26-Monooxygenase; D004083:Cholestanol / Q000097:blood; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics; D003937:Diagnosis, Differential; D006801:Humans; D009154:Mutation; D011379:Prognosis; D013250:Steroid Hydroxylases / Q000235:genetics; D019294:Xanthomatosis, Cerebrotendinous / Q000209:etiology / Q000503:physiopathology
chemical_list: D002635:Chenodeoxycholic Acid; D004083:Cholestanol; D003577:Cytochrome P-450 Enzyme System; D013250:Steroid Hydroxylases; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase