Genetically and clinically confirmed atypical cerebrotendinous xanthomatosis with normal cholestanol and marked elevations of bile acid precursors and bile alcohols
Andrea E. DeBarber, Ernst J. Schaefer, Jenny Do, Joseph W. Ray, Austin Larson, Samantha Redder, Maya Fowler, P. Barton Duell
Topics & Concepts
Cerebrotendinous XanthomatosisCholestanolMedicineBile acidInternal medicineGastroenterologySterolCholesterolCholesterol and Lipid MetabolismPeroxisome Proliferator-Activated ReceptorsFatty Acid Research and Health