|
[1] BANDMANN O, WEISS KH, KALER SG. Wilson’ s disease and other neurological copper disorders[J]. Lancet Neurol,2015, 14(1):103-113.
|
|
[2] ALA A, WALKER AP, ASHKAN K, et al. Wilson’ s disease[J]. The Lancet, 2007, 369(9559):397-408.
|
|
[3] CZŁONKOWSKA A, LITWIN T, DUSEK P, et al. Wilson disease[J]. Nat Rev Dis Primers, 2018, 4(1):21.
|
|
[4] Parkinson’ s Disease and Movement Disorders Study Group,Neurology Branch of Chinese Medical Association; Inherited Disease Study Group, Neurology Branch of Chinese Medical Association. Guidelines for the diagnosis and treatment of hepatolenticular degeneration[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，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] ROBERTS EA. Update on the diagnosis and management of Wilson disease[J]. Curr Gastroenterol Rep, 2018, 20(12):56.
|
|
[6] SCHILSKY ML. Wilson disease:Diagnosis, treatment, and follow-up[J]. Clin Liver Dis, 2017, 21(4):755-767.
|
|
[7] WU Z, DU YL. Hepatolenticular degeneration involving thalamus and brainstem:A case report[J]. Chin J Med Offic,2019, 47(2):220-221.(in Chinese）吴哲，杜育霖．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):220-221.
|
|
[8] HE WS, YANG WM. A case of hypophysis induced by hepatolenticular degeneration[J]. Clin J Chinese Med, 2014, 26(11):1192-1193.(in Chinese）何望生，杨文明．肝豆状核变性所致垂体功能减退症1例[J]．中医药临床杂志，2014, 26(11):1192-1193.
|
|
[9] ZHAO LX, YANG RM, HU JY, et al. Research on the hypothalamic-pituitary-ovary axis function in female patients with hepatolenticular degeneration[J]. Chin J Neurol, 2000, 33(6):349-351.(in Chinese）赵连旭，杨任民，胡纪原．女性肝豆状核变性下丘脑-垂体-卵巢轴功能研究[J]．中华神经科杂志，2000, 33(6):349-351.
|
|
[10] ZHAO LX, YANG RM, LIN LC, et al. Research on the hypothalamic-pituitary-testicular axis function in the male patients with hepatolen-ticular degeneration[J]. Chin J Neurol,1998, 31(1):24-27.(in Chinese）赵连旭，杨任民，林莲初．男性肝豆状核变性下丘脑-垂体-睾丸轴功能研究[J]．中华神经科杂志，1998, 31(1):24-27.
|
|
[11] HUANG DL, ZHU ZB, YU H, et al. Hepatolenticular degeneration with polycystic ovary syndrome:A case report[J]. J Clin Hepatol, 2018, 34(10):2195-2196.(in Chinese）黄德良，朱质斌，禹弘，等．肝豆状核变性合并多囊卵巢综合征1例报告[J]．临床肝胆病杂志，2018, 34(10):2195-2196.
|
|
[12] YU XE, GAO S, YANG RM, et al. MR imaging of the brain in neurologic Wilson disease[J]. AJNR Am J Neuroradiol, 2019,40(1):178-183.
|
|
[13] ZHOU XX, LI XH, PU XY, et al. Difference in imaging and metal metabolism between hepatic and cerebral type Wilson disease[J]. Natl Med J China, 2017, 97(3):176-181.(in Chinese）周香雪，李洵桦，蒲小勇，等．肝、脑型肝豆状核变性患者影像学及金属代谢的对比分析[J]．中华医学杂志，2017, 97(3):176-181.
|
|
[14] DOGANAY S, GUMUS K, KOC G, et al. Magnetic susceptibility changes in the basal ganglia and brain stem of patients with Wilson’s Disease:Evaluation with quantitative susceptibility mapping[J]. Magn Reson Med Sci, 2018, 17(1):73-79.
|
|
[15] European Association for Study of Liver. EASL clinical practice guidelines:Wilson’s disease[J]. J Hepatol, 2012, 56(3):671-685.
|
|
[16] ZARINA A, TOLMANE I, KREILE M, et al. Genetic variation spectrum in ATP7B gene identified in Latvian patients with Wilson disease[J]. Mol Genet Genomic Med, 2017, 5(4):405-409.
|
|
[17] CHENG N, WANG H, WU W, et al. Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson disease[J]. Clin Genet, 2017,92(1):69-79.
|
|
[18] CHEN SR, CHONG YT, LI XH. Clinical diagnosis of genetic liver disease[J]. Chin J Hepatol, 2018, 26(12):894-897.(in Chinese）陈淑如，崇雨田，李新华．遗传代谢性肝病的临床基因诊断[J]．中华肝脏病杂志，2018, 26(12):894-897.
|
|
[19] MAIER-DOBERSBERGER T, FERENCI P, POLLI C, et al.Detection of the His1069Gln mutation in Wilson disease by rapid polymerase chain reaction[J]. Ann Intern Med, 1997,127(1):21-26.
|
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