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Article

Cerebrotendinous xanthomatosis: a family study of sterol 27-hydroxylase mutations and pharmacotherapy.

QJM : monthly journal of the Association of Physicians - 1 Jan 1996

Watts G F, Mitchell W D, Bending J J, Reshef A, Leitersdorf E

Abstract excerpt

We examined the phenotypic characteristics, molecular genetics and optimal pharmacological treatment of cerebrotendinous xanthomatosis (CTX) in an English family with combined hyperlipidaemia. The proband presented in adulthood with classical clinical characteristics of CTX, a greater than tenfold elevation in plasma cholestanol and combined hyperlipidaemia. His brother also had typical features of CTX without...

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PMID: 8730343
DOI: 10.1093/oxfordjournals.qjmed.a030138

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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