Cerebrotendinous Xanthomatosis

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This book represents an update on the clinical, biochemical and molecular genetic findings of a rare neurometabolic disorder. Cerebrotendinous xanthomatosis (CTX), first described in 1937, is a rare genetic disorder of bile acid synthesis that can cause developmental and cognitive disability, irreversible neurological damage and premature death. Left untreated, the syndrome is slowly progressive b...
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This book represents an update on the clinical, biochemical and molecular genetic findings of a rare neurometabolic disorder. Cerebrotendinous xanthomatosis (CTX), first described in 1937, is a rare genetic disorder of bile acid synthesis that can cause developmental and cognitive disability, irreversible neurological damage and premature death. Left untreated, the syndrome is slowly progressive b...
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  • Formats: pdf
  • ISBN: 9783031925269
  • Publication Date: 19 Oct 2025
  • Publisher: Springer Nature Switzerland
  • Product language: English
  • Drm Setting: DRM