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注意:仅列出部分参考文献,下载原文获取全部文献信息。Retrospective analysis of long-term outcome 10 years after liver transplantation for Wilson disease: experience over three decades
Mohamed Saleh Ismail et al.
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EASL Clinical Practice Guidelines: Wilson’s disease
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Rescue of ATP7B function in hepatocyte-like cells from Wilson's disease induced pluripotent stem cells using gene therapy or the chaperone drug curcumin
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Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease
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Re-evaluation of the Diagnostic Criteria for Wilson Disease in Children With Mild Liver Disease
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High prevalence of fulminant hepatic failure among patients with mutant alleles for truncation of ATP7B in Wilson's disease
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Systematic review: clinical efficacy of chelator agents and zinc in the initial treatment of Wilson disease
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Reduced Expression of ATP7B Affected by Wilson Disease-Causing Mutations Is Rescued by Pharmacological Folding Chaperones 4-Phenylbutyrate and Curcumin
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Genotype-phenotype correlation in Italian children with Wilson's disease
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Monozygotic Female Twins Discordant for Phenotype of Wilson's Disease
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Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes
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Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease
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Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B)
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease:: results of a meta-analysis
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Diagnosis and phenotypic classification of Wilson disease
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Defective cellular localization of mutant ATP7B in Wilson's disease patients and hepatoma cell lines
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Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in Chinese patients with Wilson disease
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