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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://www.roneverhart.com/HP-15-fd0038ca-15-6-FHD-IPS-Laptop-Intel-Processor-N100-3-40-GHz-Intel-UHD-Graphics-8GB-DDR4-512GB-SSD-Windows-11-Hom/
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