Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
Neurol 44:288-290, Meiner,V.,et al, 1994
Spinal Xanthomatosis
Neurol 95:e1615-e1616, Valencia-Sanchez, C.,et al, 2020
Clinical Reasoning: A Case of Treatable Spastic Paraparesis
Neurol 79: e50-e53, McKinnon, J.H. & Bosch E.P., 2012
Genetic Analysis Enables Definite and Rapid Diagnosis of Cerebrotendinous Xanthomatosis
Neurol 51:865-867, Chen,W.,et al, 1998
Long-Term Treatment of Cerebrotendinous Xanthomatosis with Chenodeoxycholic Acid
NEJM 311:1649-1652, Berginer,V.M.,et al, 1984