[Cerebrotendinous xanthomatosis (CTX)].
Kinoshita
M
M
Department of Internal Medicine, Teikyo University School of Medicine.
Teramoto
T
T
D015415:Biomarkers / Q000097:blood; D002635:Chenodeoxycholic Acid / Q000627:therapeutic use; D002756:Cholagogues and Choleretics / Q000627:therapeutic use; D053493:Cholestanetriol 26-Monooxygenase; D004083:Cholestanol / Q000097:blood; D003577:Cytochrome P-450 Enzyme System / Q000172:deficiency; D003937:Diagnosis, Differential; D006801:Humans; D008928:Mitochondria / Q000201:enzymology; D011379:Prognosis; D013250:Steroid Hydroxylases / Q000172:deficiency; D019294:Xanthomatosis, Cerebrotendinous / Q000209:etiology / Q000503:physiopathology
D015415:Biomarkers; D002756:Cholagogues and Choleretics; D002635:Chenodeoxycholic Acid; D004083:Cholestanol; D003577:Cytochrome P-450 Enzyme System; D013250:Steroid Hydroxylases; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase