[1] Koboldt D C, Hickey S E, Chaudhari B P, et al. Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant[J]. Cold Spring Harb Mol Case Stud, 2020, 6(3): a005306.
[2] Czonkowska A, Litwin T, Dusek P, et al. Wilson disease[J]. Nat Rev Dis Primers, 2018, 4(1): 21.
[3] Dong Y, Ni W, Chen W-J, et al. Spectrum and classification of ATP7B variants in a large cohort of chinese patients with Wilson's disease guides genetic diagnosis[J]. Theranostics, 2016, 6(5): 638-649.
[4] 卢致琨, 程静, 黎丝敏, 等. 肝豆状核变性患儿316例临床表型和ATP7B基因变异特征[J]. 中华儿科杂志, 2022, 60(4): 317-322.
[5] Zhang S, Yang W, Li X, et al. Clinical and genetic characterization of a large cohort of patients with Wilson's disease in China[J]. Transl Neurodegener, 2022, 11(1):13.
[6] Li X, Lu Z, Lin Y, et al. Clinical features and mutational analysis in 114 young children with Wilson disease from South China[J]. Am J Med Genet A, 2019, 179(8): 1451-1458.
[7] 周霄颖, 尹瀚浚, 王春莉, 等. 55例肝豆状核变性患儿表型与基因型分析[J]. 中华肝脏病杂志, 2020, 28(7): 603-607.
[8] Sandahl T D, Laursen T L, Munk D E, et al. The prevalence of Wilson's disease: an update[J]. Hepatology, 2020, 71(2): 722-732.
[9] Nagral A, Sarma M S, Matthai J, et al. Wilson's disease: clinical practice guidelines of the Indian National Association for study of the liver, the indian society of pediatric gastroenterology, hepatology and nutrition, and the Movement Disorders Society of India[J]. J Clin Exp Hepatol, 2019, 9(1): 74-98.
[10] Ferenci P, Stremmel W, Czonkowska A, et al. Age and sex but not ATP7B genotype effectively influence the clinical phenotype of Wilson disease[J]. Hepatology, 2019, 69(4): 1464-1476.
[11] Patil M, Sheth K A, Krishnamurthy A C, et al. A review and current perspective on Wilson disease[J]. J Clin Exp Hepatol, 2013, 3(4): 321-336.
[12] Ismail M S, Hassan M, Martinez-Camacho A, et al. Retrospective analysis of long-term outcome 10 years after liver transplantation for Wilson disease: experience over three decades[J]. Transpl Int, 2020, 33(8): 925-935.
[13] Weiss K H, Scháfer M, Gotthardt D N, et al. Outcome and development of symptoms after orthotopic liver transplantation for Wilson disease[J]. Clin Transplant, 2013, 27(6): 914-922.
[14] Ryan A, Nevitt S J, Tuohy O, et al. Biomarkers for diagnosis of Wilson's disease[J]. Cochrane Database Syst Rev, 2019, 2019(11):CD012267.
[15] Chanpong A, Dhawan A. Wilson disease in children and young adults-State of the art[J]. Saudi J Gastroenterol, 2022, 28(1): 21-31.
[16] 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.
[17] Kluska A, Kulecka M, Litwin T, et al. Whole-exome sequencing identifies novel pathogenic variants across the ATP7B gene and some modifiers of Wilson's disease phenotype[J]. Liver Int, 2019, 39(1): 177-186.
[18] 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. |
