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Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families |
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| Authors: | Chen Chen Zhang Yue Wu Hui Sun Yi-Min Cai Ye-Hua Wu Jian-Jun Wang Jian Gong Ling-Yun Ding Zheng-Tong |
| Affiliation: | 1.Department of Neurology & National Clinical Research Center for Aging and Medicine, Huashan Hospital, Fudan University, 12 Wulumuqi Zhong Road, Shanghai, 200040, China ;2.Department of Neurology, Jing’an District Center Hospital of Shanghai, 259 Xikang Road, Shanghai, 20040, China ;3.Ultrasound Department, Huashan Hospital, Fudan University, 12 Wulumuqi Zhong Road, Shanghai, 200040, China ;4.Department of Neurology, Huashan Hospital North, 108 Luxiang Road, Shanghai, 201907, China ; |
| Abstract: | Metabolic Brain Disease - Cerebrotendinous xanthomatosis (CTX) is a lipid-storage disease caused by mutations in CYP27A1. Current publications of Chinese CTX were mainly based on case reports. Here... |
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