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Cerebrotendinous XanthomatosisClinical Manifestations, Diagnostic Criteria, Pathogenesis, and TherapyDepartment of Neurological and Behavioural Sciences, Medical School, University of Siena, Siena, Italy, federico{at}unisi.it
Department of Neurological and Behavioural Sciences, Medical School, University of Siena, Siena, Italy, 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;18:633638).
Journal of Child Neurology, Vol. 18, No. 9,
633-638 (2003) This article has been cited by other articles:
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