Associated Papers
Use of Estonian Biobank data and participant recall to improve Wilson's disease management.
Nurm M et al.
European Journal of Human Genetics : Ejhg, 2025
Relative exchangeable copper: A highly specific and sensitive biomarker for Wilson disease diagnosis.
Djebrani-Oussedik N et al.
Jhep Reports : Innovation in Hepatology, 2025
Spectrum and classification of ATP7B variants with clinical correlation in children with Wilson disease.
Al-Obaidi RG et al.
Saudi Medical Journal, 2025
Investigating common mutations in ATP7B gene and the prevalence of Wilson's disease in the Thai population using population-based genome-wide datasets.
Own-Eium P et al.
Journal of Human Genetics, 2025
Clinical and Molecular Analysis of ATP7B Variants Identified by Next-Generation Sequencing in Iraqi Adults With Wilson Disease.
Al-Obaidi RGY et al.
Sultan Qaboos University Medical Journal, 2025
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Systematic Analysis and Insights Into the Mutation Spectrum and Ethnic Differences in ATP7B Mutations Associated With Wilson Disease.
Lao TD et al.
Biomarker Insights, 2024
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Mutation spectrum of ATP7B gene in pediatric patients with Wilson disease in Vietnam.
Huong NTM et al.
Molecular Genetics and Metabolism Reports, 2022
Biliary atresia combined Wilson disease identified by whole exome sequencing in Vietnamese patient with severe liver failure.
Hoa NPA et al.
Medicine, 2022
Early Diagnosis of Wilson's Disease in Children in Southern China by Using Common Parameters.
Zhou J et al.
Frontiers in Genetics, 2022
Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.
Li M et al.
Bmc Gastroenterology, 2021
Clinical Implementation of Expanded Carrier Screening in Pregnant Women at Early Gestational Weeks: A Chinese Cohort Study.
Shi M et al.
Genes, 2021
A case of Wilson disease with the ATP7B mutation presenting movement disorders.
Van Nguyen H et al.
Surgical Neurology International, 2021
Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.
Zhao S et al.
European Journal of Human Genetics : Ejhg, 2019
Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.
Singh N et al.
Plos One, 2019
Three novel mutations in the ATP7B gene of unrelated Vietnamese patients with Wilson disease.
Huong NTM et al.
Bmc Medical Genetics, 2018
Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B.
Tuan Pham LA et al.
Journal of Genetics, 2017
Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.
Dong Y et al.
Theranostics, 2016
[A young boy with elevated aminotransferases in physical examination--Two novel missense mutations associated with Wilson's disease were found].
Zhu Y et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2015
Mutational characterization of ATP7B gene in 103 Wilson's disease patients from Southern China: identification of three novel mutations.
Wei Z et al.
Neuroreport, 2014
Novel ATPase Cu(2+) transporting beta polypeptide mutations in Chinese families with Wilson's disease.
Gu S et al.
Plos One, 2013
Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation.
Wang LH et al.
Journal of Human Genetics, 2011
Rapid diagnosis of Wilson disease by a 28-mutation panel: real-time amplification refractory mutation system in diagnosing acute Wilsonian liver failure.
Mak CM et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008
Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity.
Mak CM et al.
Journal of Human Genetics, 2008
Diagnosis of Wilson's disease: a comprehensive review.
Mak CM et al.
Critical Reviews in Clinical Laboratory Sciences, 2008