title: Cerebrotendinous Xanthomatosis: A Treatable Genetic Disease Not to Be Missed.
authors.affiliation: From the Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN.
authors.forename: Katherine Marie
authors.initials: KM
authors.lastname: Varman
authors.forename: Kristen
authors.initials: K
authors.lastname: Dunbar
authors.forename: Katrin
authors.initials: K
authors.lastname: Usifo
authors.forename: Cathy A
authors.initials: CA
authors.lastname: Stevens
mesh_terms: D000368:Aged; D002635:Chenodeoxycholic Acid / Q000627:therapeutic use; D053493:Cholestanetriol 26-Monooxygenase / Q000235:genetics*; D005260:Female; D006801:Humans; D009154:Mutation; D019294:Xanthomatosis, Cerebrotendinous / Q000175:diagnosis* / Q000235:genetics
chemical_list: D002635:Chenodeoxycholic Acid; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase