| Literature DB >> 17319284 |
Zhaoxia Wang1, Yun Yuan, Wei Zhang, Ying Zhang, Liqun Feng.
Abstract
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.Entities:
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Year: 2007 PMID： 17319284 DOI： 10.1111/j.1440-1789.2006.00739.x
Source DB: PubMed Journal: Neuropathology ISSN： 0919-6544 Impact factor: 1.906