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Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment

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Cerebrotendinous Xanthomatosis represents a rare and underdiagnosed inherited neurometabolic disorder due to homozygous or compound heterozygous variants involving the CYP27A1 gene. This bile acid metabolism disorder represents a key potentially treatable neurogenetic condition due to the wide spectrum of neurological presentations in which it most commonly occurs. Cerebellar ataxia. ... https://thebrickes.shop/product-category/bottle-opener/
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