[1] |
YI LP, ZHANG W, WU Z, et al. Present status of diagnosis and treatment of hepatolenticular degeneration[J]. Chin J Hepatol, 2019, 27(3): 161-165. DOI: 10.3760/cma.j.issn.1007-3418.2019.03.001.
伊丽萍, 张伟, 武祯, 等. 肝豆状核变性的诊治现状[J]. 中华肝脏病杂志, 2019, 27(3): 161-165. DOI: 10.3760/cma.j.issn.1007-3418.2019.03.001.
|
[2] |
WILSON SAK. Progressive lenticular degeneration: A familiar nervous disease associated with cirrhosis of the liver[J]. Brain, 1912, 34(4): 295-507. DOI: 10.1093/brain/34.4.295.
|
[3] |
LALIOTI V, SANDOVAL I, CASSIO D, et al. Molecular pathology of Wilson's disease: a brief[J]. J Hepatol, 2010, 53(6): 1151-1153. DOI: 10.1016/j.jhep.2010.07.008.
|
[4] |
BALASHOVA MS, TULUZANOVSKAYA IG, GLOTOV OS, et al. The spectrum of pathogenic variants of the ATP7B gene in Wilson disease in the Russian Federation[J]. J Trace Elem Med Biol, 2020, 59: 126420. DOI: 10.1016/j.jtemb.2019.126420.
|
[5] |
ROY S, MCCANN CJ, RALLE M, et al. Analysis of Wilson disease mutations revealed that interactions between different ATP7B mutants modify their properties[J]. Sci Rep, 2020, 10(1): 13487. DOI: 10.1038/s41598-020-70366-7.
|
[6] |
KUMAR M, GAHARWAR U, PAUL S, et al. WilsonGen a comprehensive clinically annotated genomic variant resource for Wilson's disease[J]. Sci Rep, 2020, 10(1): 9037. DOI: 10.1038/s41598-020-66099-2.
|
[7] |
de BIE P, MULLER P, WIJMENGA C, et al. Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes[J]. J Med Genet, 2007, 44(11): 673-688. DOI: 10.1136/jmg.2007.052746.
|
[8] |
GOLLAN JL, GOLLAN TJ. Wilson disease in 1998: genetic, diagnostic and therapeutic aspects[J]. J Hepatol, 1998, 28 Suppl 1: 28-36. DOI: 10.1016/s0168-8278(98)80373-5.
|
[9] |
ABUDUXIKUER K, LI LT, QIU YL, et al. Wilson disease with hepatic presentation in an eight-month-old boy[J]. World J Gastroenterol, 2015, 21(29): 8981-8984. DOI: 10.3748/wjg.v21.i29.8981.
|
[10] |
PARK S, PARK JY, KIM GH, et al. Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease[J]. Hum Mutat, 2007, 28(11): 1108-1113. DOI: 10.1002/humu.20574.
|
[11] |
SHIMIZU N, NAKAZONO H, TAKESHITA Y, et al. Molecular analysis and diagnosis in Japanese patients with Wilson's disease[J]. Pediatr Int, 1999, 41(4): 409-413. DOI: 10.1046/j.1442-200x.1999.01092.x.
|
[12] |
DAVIES LP, MACINTYRE G, COX DW. New mutations in the Wilson disease gene, ATP7B: implications for molecular testing[J]. Genet Test, 2008, 12(1): 139-145. DOI: 10.1089/gte.2007.0072.
|
[13] |
ZHANG XC, NIU SD, YAN Y, et al. Analysis of ATP7B gene mutation in hepatolenticular degeneration and its relationship with clinic[J/CD]. J Clin Med Lit (Electronic Edition), 2019, 6(14): 66-68. DOI: 10.3877/j.issn.2095-8242.2019.14.054.
张雪纯, 牛淑迪, 闫阳, 等. 肝豆状核变性的ATP7B基因突变分析及其与临床关系研究[J/CD]. 临床医药文献电子杂志, 2019, 6(14): 66-68. DOI: 10.3877/j.issn.2095-8242.2019.14.054.
|
[14] |
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. DOI: 10.1111/cge.12951.
|
[15] |
YE S, GONG L, SHUI QX, et al. Wilson disease: identification of two novel mutations and clinical correlation in Eastern Chinese patients[J]. World J Gastroenterol, 2007, 13(38): 5147-5150. DOI: 10.3748/wjg.v13.i38.5147.
|
[16] |
LI XH, LU Y, LING Y, et al. Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations[J]. BMC Med Genet, 2011, 12: 6. DOI: 10.1186/1471-2350-12-6.
|
[17] |
LEE BH, KIM JH, LEE SY, et al. Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort[J]. Liver Int, 2011, 31(6): 831-839. DOI: 10.1111/j.1478-3231.2011.02503.x.
|
[18] |
ZHOU SM, GUO LP, CAI WF, et al. Latest advances in the treatment of hepatolenticular degeneration[J]. J Clin Hepatol, 2020, 36(1): 218-221. DOI: 10.3969/j.issn.1001-5256.2020.01.052.
周思敏, 郭丽萍, 蔡王锋, 等. 肝豆状核变性的治疗现状[J]. 临床肝胆病杂志, 2020, 36(1): 218-221. DOI: 10.3969/j.issn.1001-5256.2020.01.052.
|