Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis

被引：0
|
作者：
Qing-Qing Tao
Yun Zhang
Hui-Xia Lin
Hai-Lin Dong
Wang Ni
Zhi-Ying Wu
机构：
[1] Zhejiang University School of Medicine,Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province
来源：
Orphanet Journal of Rare Diseases | / 14卷
关键词：
Cerebrotendinous xanthomatosis; Mutation; Clinical feature;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 50 条
  • [1] Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis
    Tao, Qing-Qing
    Zhang, Yun
    Lin, Hui-Xia
    Dong, Hai-Lin
    Ni, Wang
    Wu, Zhi-Ying
    ORPHANET JOURNAL OF RARE DISEASES, 2019, 14 (01)
  • [2] Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis
    Verrips, A
    Hoefsloot, LH
    Steenbergen, GCH
    Theelen, JP
    Wevers, RA
    Gabreëls, FJM
    van Engelen, BGM
    van den Heuvel, LPWJ
    BRAIN, 2000, 123 : 908 - 919
  • [3] Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families
    Chen, Chen
    Zhang, Yue
    Wu, Hui
    Sun, Yi-Min
    Cai, Ye-Hua
    Wu, Jian-Jun
    Wang, Jian
    Gong, Ling-Yun
    Ding, Zheng-Tong
    METABOLIC BRAIN DISEASE, 2017, 32 (05) : 1609 - 1618
  • [4] Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families
    Chen Chen
    Yue Zhang
    Hui Wu
    Yi-Min Sun
    Ye-Hua Cai
    Jian-Jun Wu
    Jian Wang
    Ling-Yun Gong
    Zheng-Tong Ding
    Metabolic Brain Disease, 2017, 32 : 1609 - 1618
  • [5] Clinical, electrophysiological, and genetic characteristics of cerebrotendinous xanthomatosis in South Korea
    Kim, Sunyoung
    Park, Jin-Sung
    Lee, Jae-Hyeok
    Shin, Ha-Young
    Yang, Hui-Jun
    Shin, Jin-Hong
    NEUROCASE, 2022, 28 (06) : 477 - 482
  • [6] Cerebrotendinous Xanthomatosis Patients With and Without Parkinsonism: Clinical Characteristics and Neuroimaging Findings
    Su, Chen-San
    Chang, Wen-Neng
    Huang, Shu-Hua
    Lui, Chun-Chung
    Pan, Tai-Long
    Lu, Chen-Hsien
    Chuang, Yao-Chung
    Huang, Chi-Ren
    Tsai, Nei-Wen
    Hsieh, Mei-Jen
    Chang, Chiung-Chih
    MOVEMENT DISORDERS, 2010, 25 (04) : 452 - 458
  • [7] Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey
    Pilo-de-la-Fuente, B.
    Jimenez-Escrig, A.
    Lorenzo, J. R.
    Pardo, J.
    Arias, M.
    Ares-Luque, A.
    Duarte, J.
    Muniz-Perez, S.
    Sobrido, M. J.
    EUROPEAN JOURNAL OF NEUROLOGY, 2011, 18 (10) : 1203 - 1211
  • [8] CEREBROTENDINOUS XANTHOMATOSIS - CLINICAL, GENETIC AND BIOCHEMICAL FINDINGS IN 3 CASES
    DEGENNES, JL
    DAIROU, F
    LAURENT, A
    LUC, G
    TRUFFERT, J
    LAPRESLE, J
    GAMBERT, P
    SALEN, G
    BEREZIAT, G
    ANNALES DE MEDECINE INTERNE, 1986, 137 (08): : 688 - 688
  • [9] Cerebrotendinous xanthomatosis with peripheral neuropathy: a clinical and neurophysiological study in Chinese population
    Zhang, Shu
    Li, Wei
    Zheng, Rui
    Zhao, Bing
    Zhang, Yongqing
    Zhao, Dandan
    Zhao, Cuiping
    Yan, Chuanzhu
    Zhao, Yuying
    ANNALS OF TRANSLATIONAL MEDICINE, 2020, 8 (21)
  • [10] Clinical relevance of brain volume changes in patients with cerebrotendinous xanthomatosis
    Guerrera, S.
    Stromillo, M. L.
    Mignarri, A.
    Battaglini, M.
    Marino, S.
    Di Perri, C.
    Federico, A.
    Dotti, M. T.
    De Stefano, N.
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2010, 81 (11): : 1189 - 1193
12345