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ISSN 1001-5256 (Print)
ISSN 2097-3497 (Online)
CN 22-1108/R
Volume 35 Issue 11
Nov.  2019
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Hepatolenticular degeneration with MTHFR gene mutation: A case report

DOI: 10.3969/j.issn.1001-5256.2019.11.033
  • Published Date: 2019-11-20
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    [3] XIE JJ,WU ZY. Wilson’s disease in China[J]. Neurosci Bull,2017,33(3):323-330.
    [4] REYNOLDS E. Vitamin B12,folic acid,and the nervous system[J]. Lancet Neurol,2006,5(11):949-960.
    [5] ZHOU JJ,YUAN J,HAN JS,et al. Progress in clinical application of methylenetetrahydrofolate reductase polymorphism[J]. Med Recapitulate,2018,24(7):1266-1272.(in Chinese)周佳菁,袁箐,韩峻松,等.亚甲基四氢叶酸还原酶多态性的临床应用研究进展[J].医学综述,2018,24(7):1266-1272.
    [6] Chinese Medical Association Neurology Branch Parkinson’s Disease and Movement Disorders Group. Guide to diagnosis and treatment of Wilson’s disease[J]. Chin J Neurol,2008,41(8):566-569.(in Chinese)中华医学会神经病学分会帕金森病及运动障碍学组.肝豆状核变性的诊断与治疗指南[J].中华神经科杂志,2008,41(8):566-569.
    [7] DU YL,WU Z. Hepatolenticular degeneration involving the thalamus and brainstem:A case report[J]. Clin J Med Offic,2019,47(2):220.(in Chinese)杜育霖,吴哲.肝豆状核变性累及丘脑与脑干1例[J].临床军医杂志,2019,47(2):220.
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    [11] WHITE AR,HUANG X,JOBLING MF,et al. Homocysteine potentiates copper-and amyloid beta peptide-mediated toxicity in primary neuronal cultures:Possible risk factors in the Alzheimer’s-type neurodegenerative pathways[J]. J Neurochem,2001,76(5):1509-1520.
    [12] LINNEBANK M,LUTZ H,JARRE E,et al. Binding of copper is a mechanism of homocysteine toxicity leading to COX deficiency and apoptosis in primary neurons,PC12 and SHSY-5Y cells[J]. Neurobiol Dis,2006,23(3):725-730.
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