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Article

Update on cerebrotendinous xanthomatosis.

Current opinion in lipidology - 1 Apr 2021

DeBarber Andrea E, Duell P Barton

Abstract excerpt

PURPOSE OF REVIEW: Cerebrotendinous xanthomatosis (CTX) is a rare genetic lipid storage disorder with highly pleomorphic clinical phenotype. Complications of this disease can be devastating and may include severe cognitive impairment and dementia in later stages. Disease progression can be prevented or stabilized by bile acid replacement therapy, although a subset of patients with advanced disease continue to...

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PMID: 33630770
DOI: 10.1097/MOL.0000000000000740

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