Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment

We report this case to illustrate the potential benefits of therapy in patients with CTX who have advanced disease at the time of diagnosis.

Source: American Journal of Medical Genetics Part A - June 7, 2017 Category: Genetics & Stem Cells Authors: Ahmad Alhariri, Katherine Hamilton, Vikash Oza, Kelly Cordoro, Nara L. Sobreira, Mary Malloy, Anne Slavotinek Tags: CLINICAL REPORT Source Type: research