Czlonkowska A, Litwin T, Dusek P, Ferenci P, Lutsenko S, Medici V, et al. Wilson disease. Nat Rev Dis Primers. 2018;4(1):21
Article PubMed PubMed Central Google Scholar
Xie J-J, Wu Z-Y. Wilson’s disease in China. Neurosci Bull. 2017;33(3):323–330
Article PubMed PubMed Central Google Scholar
Cheung KS, Seto WK, Fung J, Mak LY, Lai CL, Yuen MF. Epidemiology and natural history of Wilson’s disease in the Chinese: a territory-based study in Hong Kong between 2000 and 2016. World J Gastroenterol. 2017;23(43):7716–7726
Article PubMed PubMed Central Google Scholar
Yamaguchi H, Nagase H, Tokumoto S, Tomioka K, Nishiyama M, Takeda H, et al. Prevalence of Wilson disease based on genome databases in Japan. Pediatr Int. 2021;63(8):918–922
Article CAS PubMed Google Scholar
Jang ES, Choi HY, Ki M, Kim BH, Kim KA, Jeong SH. Prevalence, incidence, and treatment pattern of Wilson’s disease using national health insurance data from 2010–2020, Korea. J Korean Med Sci. 2024;39(12): e115
Article PubMed PubMed Central Google Scholar
Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML. Wilson’s disease. Lancet. 2007;369(9559):397–408
Article CAS PubMed Google Scholar
Li X, Zhang W, Zhou D, Lv T, Xu A, Wang H, et al. Complex ATP7B mutation patterns in Wilson disease and evaluation of a yeast model for functional analysis of variants. Hum Mutat. 2019;40(5):552–565
Article CAS PubMed Google Scholar
Cheng N, Wang H, Wu W, Yang R, Liu L, Han Y, et al. Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson disease. Clin Genet. 2017;92(1):69–79
Article CAS PubMed Google Scholar
Dong Y, Ni W, Chen WJ, Wan B, Zhao GX, Shi ZQ, et al. Spectrum and classification of ATP7B variants in a large cohort of Chinese patients with Wilson’s disease guides genetic diagnosis. Theranostics. 2016;6(5):638–649
Article CAS PubMed PubMed Central Google Scholar
Nagral A, Mallakmir S, Garg N, Tiwari K, Masih S, Nagral N, et al. Genomic variations in ATP7B gene in Indian patients with Wilson disease. Indian J Pediatr. 2023;90(3):240–248
Okada T, Shiono Y, Hayashi H, Satoh H, Sawada T, Suzuki A, et al. Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson’s disease. Hum Mutat. 2000;15(5):454–462
Article CAS PubMed Google Scholar
Lalioti V, Sandoval I, Cassio D, Duclos-Vallee JC. Molecular pathology of Wilson’s disease: a brief. J Hepatol. 2010;53(6):1151–1153
Gerosa C, Fanni D, Congiu T, Piras M, Cau F, Moi M, et al. Liver pathology in Wilson’s disease: from copper overload to cirrhosis. J Inorg Biochem. 2019;193:106–111
Article CAS PubMed Google Scholar
Medici V, Weiss K-H. Genetic and environmental modifiers of Wilson disease. Handb Clin Neurol. 2017;142:35–41
de Bie P, van de Sluis B, Burstein E, van de Berghe PV, Muller P, Berger R, et al. Distinct Wilson’s disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B. Gastroenterology. 2007;133(4):1316–1326
Article PubMed PubMed Central Google Scholar
Kumari N, Kumar A, Pal A, Thapa BR, Modi M, Prasad R. In-silico analysis of novel p.(Gly14Ser) variant of ATOX1 gene: plausible role in modulating ATOX1-ATP7B interaction. Mol Biol Rep. 2019;46(3):3307–3313
Article CAS PubMed Google Scholar
Weiss KH, Runz H, Noe B, Gotthardt DN, Merle U, Ferenci P, et al. Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease. J Inherit Metab Dis. 2010;33(Suppl 3):S233-40
Roy S, Ganguly K, Pal P, Ghosh S, Das SK, Gangopadhyay PK, et al. Influence of Apolipoprotein E polymorphism on susceptibility of Wilson disease. Ann Hum Genet. 2018;82(2):53–59
Article CAS PubMed Google Scholar
Zhou D, Jia S, Yi L, Wu Z, Song Y, Zhang B, et al. Identification of potential modifier genes in Chinese patients with Wilson disease. Metallomics. 2022;14(5):mfac024
Article PubMed PubMed Central Google Scholar
Ferenci P, Stremmel W, Członkowska A, Szalay F, Viveiros A, Stättermayer AF, et al. Age and sex but not ATP7B genotype effectively influence the clinical phenotype of Wilson disease. Hepatology. 2019;69(4):1464–1476
Article CAS PubMed Google Scholar
Sandahl TD, Laursen TL, Munk DE, Vilstrup H, Weiss KH, Ott P. The prevalence of Wilson’s disease: an update. Hepatology. 2020;71(2):722–732
Cheng N, Wang K, Hu W, Sun D, Wang X, Hu J, et al. Wilson disease in the South chinese han population. Can J Neurol Sci. 2014;41(3):363–367
Tai C-S, Wu J-F, Chen H-L, Hsu H-Y, Chang M-H, Ni Y-H. Modality of treatment and potential outcome of Wilson disease in Taiwan: a population-based longitudinal study. J Formos Med Assoc. 2018;117(5):421–426
Gao J, Brackley S, Mann JP. The global prevalence of Wilson disease from next-generation sequencing data. Genet Med. 2019;21(5):1155–1163
Article CAS PubMed Google Scholar
Jang JH, Lee T, Bang S, Kim YE, Cho EH. Carrier frequency of Wilson’s disease in the Korean population: a DNA-based approach. J Hum Genet. 2017;62(9):815–818
Article CAS PubMed Google Scholar
Own-Eium P, Dejsuphong D, Vathesatogkit P, Sritara P, Sura T, Aekplakorn W, et al. Investigating common mutations in ATP7B gene and the prevalence of Wilson’s disease in the Thai population using population-based genome-wide datasets. J Hum Genet. 2025;70(1):17–24
Article CAS PubMed Google Scholar
Saito T. Presenting symptoms and natural history of Wilson disease. Eur J Pediatr. 1987;146(3):261–5
Article CAS PubMed Google Scholar
Członkowska A, Rodo M, Gromadzka G. Late onset Wilson’s disease: therapeutic implications. Mov Disord. 2008;23(6):896–898
Ferenci P, Członkowska A, Merle U, Ferenc S, Gromadzka G, Yurdaydin C, et al. Late-onset Wilson’s disease. Gastroenterology. 2007;132(4):1294–1298
Article CAS PubMed Google Scholar
Ala A, Borjigin J, Rochwarger A, Schilsky M. Wilson disease in septuagenarian siblings: raising the bar for diagnosis. Hepatology. 2005;41(3):668–670
Wilson D, Phillips M, Cox D, Roberts E. Severe hepatic Wilson’s disease in preschool-aged children. J Pediatr. 2000;137(5):719–722
Article CAS PubMed Google Scholar
Li X, Lu Y, Ling Y, Fu Q, Xu J, Zang G, et al. Clinical and molecular characterization of Wilson’s disease in China: identification of 14 novel mutations. BMC Med Genet. 2011;12:6
Comments (0)