title: [A paradigm to elucidate a congenital disease, cerebrotendinous xanthomatosis].
authors.affiliation: Department of Surgery I, Miyazaki Medical College, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Okuda
authors.forename: T
authors.initials: T
authors.lastname: Setoguchi
mesh_terms: D015650:24,25-Dihydroxyvitamin D 3 / Q000378:metabolism; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D001927:Brain Diseases / Q000201:enzymology / Q000209:etiology / Q000235:genetics*; D053493:Cholestanetriol 26-Monooxygenase; D002777:Cholestanols / Q000378:metabolism; D003577:Cytochrome P-450 Enzyme System / Q000172:deficiency / Q000378:metabolism; D017353:Gene Deletion; D006801:Humans; D008930:Mitochondria, Liver / Q000201:enzymology; D008969:Molecular Sequence Data; D010024:Osteoporosis / Q000378:metabolism; D017354:Point Mutation; D013250:Steroid Hydroxylases / Q000172:deficiency; D014973:Xanthomatosis / Q000201:enzymology / Q000209:etiology / Q000235:genetics*
chemical_list: D002777:Cholestanols; D015650:24,25-Dihydroxyvitamin D 3; C012832:cholestane-3,7,12,24,25-pentol; D003577:Cytochrome P-450 Enzyme System; D013250:Steroid Hydroxylases; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase