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Article

[Clinical and genetics characteristics of adult-onset cerebrotendinous xanthomatosis: analysis of a Chinese pedigree].

Zhonghua nei ke za zhi - 1 Apr 2023

Zhao B, Wang Z W, Zhang Y M, Yu Y X, Yao S, Zhao J J, Li H, Liang L, Pan S Y, Qian H R

Abstract excerpt

Objective: Clinical manifestations, imaging findings, pathologic features, and genetic mutations of Chinese adult patients with cerebrotendinous xanthomatosis (CTX) were analyzed in order to achieve a greater understanding of CTX that can improve early detection, diagnosis, and treatment. Methods: Clinical data including medical history, neurologic and auxiliary examinations, imaging findings, and genetic profile...

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Identifiers

PMID: 37032135
DOI: 10.3760/cma.j.cn112138-20220328-00215

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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