Nationwide survey on cerebrotendinous xanthomatosis in Japan.

Abstract excerpt

Cerebrotendinous xanthomatosis (CTX) is likely to be underdiagnosed and precise epidemiological characteristics of CTX are largely unknown as knowledge on the disorder is based mainly on case reports. We conducted a nationwide survey on CTX to elucidate the frequency, clinical picture, and molecular biological background of Japanese CTX patients. In this first Japanese nationwide survey on CTX, 2541...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cholestanetriol 26-Monooxygenase
• Share to Diagnosis, Differential
• Share to Disease Management