| [1] |
BANDMANN O, WEISS KH, KALER SG. Wilson's disease and other neurological copper disorders[J]. Lancet Neurol, 2015, 14(1): 103-113. DOI: 10.1016/S1474-4422(14)70190-5. |
| [2] |
LO C, BANDMANN O. Epidemiology and introduction to the clinical presentation of Wilson disease[J]. Handb Clin Neurol, 2017, 142: 7-17. DOI: 10.1016/B978-0-444-63625-6.00002-1. |
| [3] |
XIONG F, KUAI Y, XIE SY, et al. The necessity for hepatolenticular degeneration screening among children based on the different results of two cases[J/CD]. Chin J Liver Dis(Electronic Edition), 2021, 13(2): 69-72. DOI: 10.3969/j.issn.1674-7380.2021.02.012. |
| [4] |
Neurogenetics Group, Neurology Branch of Chinese Medical Association, Chinese guidelines for diagnosis and treatment of Wilson's disease 2021[J]. Chin J Neurol, 2021, 54(4): 310-319. DOI: 10.3760/cma.j.cn113694-20200826-00661. |
| [5] |
DING XR, JIA XF, SHI N, et al. Hepatolenticular degeneration in two sisters with liver disease as the first symptom[J/CD]. Chin J Clin(Electronic Edition), 2018, 12(6): 366-367. DOI: 10.3877/cma.j.issn.1674-0785.2018.06.011. |
| [6] |
ZHANG S, LI L, W ANG J. Wilson disease patient with rare heterozygous mutations in ATP7B accompanied by distinctive nocturnal enuresis: A case report[J]. Medicine (Baltimore), 2020, 99(28): e20997. DOI: 10.1097/MD.0000000000020997. |
| [7] |
MERLE U, SCHAEFER M, FERENCI P, et al. Clinical presentation, diagnosis and long-term outcome of Wilson's disease: A cohort study[J]. Gut, 2007, 56(1): 115-120. DOI: 10.1136/gut.2005.087262.Epub2006May18. |
| [8] |
|
| [9] |
Parkinson's Disease and Movement Disorders Group of Neurology Branch of Chinese Medical Association, Neurogenetics Group, Chinese Medical Association Neurology Branch. Guidelines for the diagnosis and treatment of hepatolenticular degeneration[J]. Chin J Neurol, 2008, 41(8): 566-569. DOI: 10.3321/j.issn:1006-7876.2008.08.022. |
| [10] |
STENSON PD, MORT M, BALL EV, et al. The Human Gene Mutation Database: Towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies[J]. Hum Genet, 2017, 136(6): 665-677. DOI: 10.1007/s00439-017-1779-6. |
| [11] |
SAPUPPO A, PAVONE P, PRATICÒ AD, et al. Genotype-phenotype variable correlation in Wilson disease: Clinical history of two sisters with the similar genotype[J]. BMC Med Genet, 2020, 21(1): 128. DOI: 10.1186/s12881-020-01062-6. |
| [12] |
DONG Y, NI W, CHEN WJ, et al. Spectrum and classificationof ATP7B variants in a large cohort of Chinese patients with Wilson's disease guides genetic diagnosis[J]. Theranostics, 2016, 6(5): 638-649. DOI: 10.7150/thno.14596. |
| [13] |
XIAO H, DENG S, DENG X, et al. Mutation analysis of the ATP7B gene in seven Chinese families with Wilson's Disease[J]. Digestion, 2019, 99(4): 319-326. DOI: 10.1159/000493314. |
| [14] |
CHABIK G, LITWIN T, CZLONKOWSKA A. Concordance rates of Wilson's disease phenotype among siblings[J]. J Inherit Metab Dis, 2014, 37(1): 131-135. DOI: 10.1007/s10545-013-9625-z. |
| [15] |
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. |
| [16] |
EINER C, LEITZINGER C, LICHTMANNEGGER J, et al. A high-calorie diet aggravates mitochondrial dysfunction and triggers severe liver damage in Wilson Disease rats[J]. Cell Mol Gastroenterol Hepatol, 2019, 7(3): 571-596. DOI: 10.1016/j.jcmgh.2018.12.005. |
| [17] |
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. |
| [18] |
FANNI D, GEROSA C, NURCHI VM, et al. Copper-induced epigenetic changes shape the clinical phenotype in Wilson's Disease[J]. Curr Med Chem, 2021, 28(14): 2707-2716. DOI: 10.2174/0929867327666200730214757 |
DownLoad: