[1] Ferenci P, Caca K, Loudianos G, et al. Diagnosis and phenotypic classification of Wilson's disease[J]. Liver Int, 2003,23(3):139-142.[2] Roberts E A, Schilsky M L. American Association for Study of Liver Diseases(AASLD). Diagnosis and treatment of Wilson disease: an update[J]. Hepatology, 2008,47(6):2089-2111.[3] European Association for Study of Liver. EASL Clinical Practice Guidelines: Wilson's disease[J]. J Hepatol, 2012,56(3):671-685.[4] 中华医学会神经病学分会帕金森病及运动障碍学组,中华医学会神经病学分会神经遗传病学组.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.[5] 张前军,李汶,高伯迪,等.13 例肝豆状核变性家系致病基因突变的检测和分析[J].生命科学研究,2011,15(6):497-501.[6] 蒋黎敏,张晓青,钱一磊,等.Wilson病ATP7B基因突变检测[J].诊断学理论与实践,2013,12(4):406-409.[7] Curtis D, Durkie M, Balac(Morris) P, et al. A study of Wilson disease mutations in Britain[J]. Hum Mutat, 1999,14(4):304-311.[8] Schmidt H H. Role of genotyping in Wilson's disease[J]. J Hepatol, 2009,50(3):449-452.[9] 杨建栋,窦科峰.肝豆状核变性诊疗进展[J].第四军医大学学报,2009,30(20):2252-2254.[10] 王丽旻,张鸿飞,董漪,等.慢性乙型病毒性肝炎合并肝豆状核变性[J].临床误诊误治,2012,25(5):37-38.[11] 罗武,王波,刘卫军.肝豆状核变性87例脑核磁共振成像表现特点分析[J].中国煤炭工业医学杂志,2014,17(3):397-398. |