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学科主题: 临床医学
题名:
Cerebrotendinous xanthomatosis with a compound heterozygote mutation and severe polyneuropathy
作者: Wang, Zhaoxia; Yuan, Yun; Zhang, Wei; Zhang, Ying; Feng, Liqun
关键词: cerebrotendinous xanthomatosis ; CYP27A1 gene ; polyneuropathy
刊名: NEUROPATHOLOGY
发表日期: 2007-02-01
DOI: 10.1111/j.1440-1789.2006.00739.x
卷: 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
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/56791
Appears in Collections:北京大学第一临床医学院_神经内科_期刊论文

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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

Recommended Citation:
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.
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