Cerebrotendinous Xanthomatosis
- 1 September 2003
- journal article
- review article
- Published by SAGE Publications in Journal of Child Neurology
- Vol. 18 (9), 633-638
- https://doi.org/10.1177/08830738030180091001
Abstract
In this report, we review the clinical, biochemical, pathophysiologic, and therapeutic aspects of cerebrotendinous xanthomatosis. We stress the importance of early diagnosis and treatment. In addition, we describe our experience in treating patients with chenodeoxycholic acid, an essential drug for this disorder that is no longer available. ( J Child Neurol 2003;18:633—638).Keywords
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