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Cerebrotendinous xanthomatosis with a compound heterozygote mutation and severe polyneuropathy
Wang, Zhaoxia; Yuan, Yun; Zhang, Wei; Zhang, Ying; Feng, Liqun
关键词Cerebrotendinous Xanthomatosis Cyp27a1 Gene Polyneuropathy
刊名NEUROPATHOLOGY
2007-02-01
DOI10.1111/j.1440-1789.2006.00739.x
27期:1页:62-66
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Clinical Neurology ; Neurosciences ; Pathology
研究领域[WOS]Neurosciences & Neurology ; Pathology
关键词[WOS]STEROL 27-HYDROXYLASE GENE ; PERIPHERAL NEUROPATHY ; NERVE
英文摘要

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessively inherited lipid storage disorder with multiple system involvement and has been reported worldwide. Here we report a Chinese family with CTX and present the pathological findings within peripheral nerves and CYP27A1 gene mutation analysis. We also review the published literature to discuss the clinical presentation and classification of neuropathy in this disease.

语种英语
WOS记录号WOS:000243636500007
引用统计
被引频次:11[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/56791
专题北京大学第一临床医学院_神经内科
作者单位1.An Zhen Hosp, Dept Neurol, Beijing, Peoples R China
2.Peking Univ, Dept Neurol, First Hosp, Beijing 100034, Peoples R China
3.Peking Univ, Core Facil, First Hosp, Beijing 100034, Peoples R China
推荐引用方式
GB/T 7714
Wang, Zhaoxia,Yuan, Yun,Zhang, Wei,et al. Cerebrotendinous xanthomatosis with a compound heterozygote mutation and severe polyneuropathy[J]. NEUROPATHOLOGY,2007,27(1):62-66.
APA Wang, Zhaoxia,Yuan, Yun,Zhang, Wei,Zhang, Ying,&Feng, Liqun.(2007).Cerebrotendinous xanthomatosis with a compound heterozygote mutation and severe polyneuropathy.NEUROPATHOLOGY,27(1),62-66.
MLA Wang, Zhaoxia,et al."Cerebrotendinous xanthomatosis with a compound heterozygote mutation and severe polyneuropathy".NEUROPATHOLOGY 27.1(2007):62-66.
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