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.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Age of Onset
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Chenodeoxycholic Acid / therapeutic use
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Humans
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Magnetic Resonance Imaging
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Xanthomatosis, Cerebrotendinous / diagnosis*
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Xanthomatosis, Cerebrotendinous / pathology
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Xanthomatosis, Cerebrotendinous / physiopathology
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Xanthomatosis, Cerebrotendinous / therapy*