Search
Now showing items 1-1 of 1
Cerebrotendinous Xanthomatosis Revealed in Drug-Resistant Epilepsy Diagnostic Workup
(Lippincott Williams, 2012-04)
Cerebrotendinous xanthomatosis (CTX) is a treatable disorder of bile acid production caused by mutations in the mitochondrial enzyme sterol 27-hydroxilase. This inborn error of bile acid metabolism results in lipid pathologic ...