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Article

Cerebrotendinous xanthomatosis without neurological involvement

8 Apr 2021

Abstract excerpt

BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is an autosomal recessively inherited inborn error of metabolism. Neurological symptoms are considered to be a clinical hallmark of untreated adult patients. We describe a 'milder CTX phenotype', without neurological involvement. METHODS: We performed a retrospective patient file study in 79 genetically confirmed Dutch patients with CTX (55 patients aged ≥ 21...

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PMID: 33830582
DOI: 10.1111/joim.13277

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