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
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.
Melo M et al.
International Journal of Molecular Sciences, 2025
Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity.
Klippel C et al.
International Journal of Neonatal Screening, 2025
Spectrum of Pathogenic Variants of the ATP7B Gene and Genotype-Phenotype Correlation in Eastern Eurasian Patient Cohorts with Wilson's Disease.
Garbuz M et al.
Biomedicines, 2024
Navigating the CRISPR/Cas Landscape for Enhanced Diagnosis and Treatment of Wilson's Disease.
Choi W et al.
Cells, 2024
Nano-Mediated Molecular Targeting in Diagnosis and Mitigation of Wilson Disease.
Chaturvedi A et al.
Molecular Neurobiology, 2024
Epidemiology of Wilson's Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions.
Ovchinnikova EV et al.
International Journal of Molecular Sciences, 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
Severe early-onset Wilson disease caused by a common pathogenic variant in the Bukharan Jewish population in Israel.
Orenstein N et al.
Gene, 2023
Design, Optimization and Validation of the ARMS PCR Protocol for the Rapid Diagnosis of Wilson's Disease Using a Panel of 14 Common Mutations for the European Population.
Garbuz MM et al.
Genes, 2022
Effect of homeostatic iron regulator protein gene mutation on Wilson's disease clinical manifestation: original data and literature review.
Gromadzka G et al.
The International Journal of Neuroscience, 2022
Mutation spectrum of ATP7B gene in pediatric patients with Wilson disease in Vietnam.
Huong NTM et al.
Molecular Genetics and Metabolism Reports, 2022
Wilson disease in Northern Portugal: a long-term follow-up study.
Garrido I et al.
Orphanet Journal of Rare Diseases, 2022
Wilson Disease Prevalence: Discrepancy Between Clinical Records, Registries and Mutation Carrier Frequency.
Lorente-Arencibia P et al.
Journal of Pediatric Gastroenterology and Nutrition, 2022
Wilson's Disease: First Report of Two Combined Mutational Variants in a Portuguese Patient.
Trindade M et al.
European Journal of Case Reports in Internal Medicine, 2022
New ATP7B Gene Mutation in a Brazilian Patient with Wilson Disease.
Barros de Oliveira Sá MV et al.
European Journal of Case Reports in Internal Medicine, 2022
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Haverfield EV et al.
Bmc Medicine, 2021
Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease.
Collins CJ et al.
Gastroenterology, 2021
Management Perspective of Wilson's Disease: Early Diagnosis and Individualized Therapy.
Yuan XZ et al.
Current Neuropharmacology, 2021
Transcranial sonography changes in heterozygotic carriers of the ATP7B gene.
Skowronska M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020
The co-occurrence of Wilson disease and X-linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis.
Poskanzer SA et al.
Molecular Genetics & Genomic Medicine, 2020
ATP7B Mutation Analysis: Wilson Disease, A Difficult to Diagnose Case.
Hashmi MA et al.
Journal of the College of Physicians and Surgeons--pakistan : Jcpsp, 2020
Association of Variants in the CP, ATOX1 and COMMD1 Genes with Wilson Disease Symptoms in Latvia.
Zarina A et al.
Balkan Journal of Medical Genetics : Bjmg, 2019
HSD17B13 truncated variant is associated with a mild hepatic phenotype in Wilson's Disease.
Ferenci P et al.
Jhep Reports : Innovation in Hepatology, 2019
Age and Sex but Not ATP7B Genotype Effectively Influence the Clinical Phenotype of Wilson Disease.
Ferenci P et al.
Hepatology (baltimore, Md.), 2019
Whole-exome sequencing identifies novel pathogenic variants across the ATP7B gene and some modifiers of Wilson's disease phenotype.
Kluska A et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2019
Molecular genetic diagnosis of Wilson disease by ARMS-PCR in a Pakistani family.
Khan HN et al.
Molecular Biology Reports, 2018
Familial screening of children with Wilson disease: Necessity of screening in previous generation and screening methods.
Li H et al.
Medicine, 2018
Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report.
Liu G et al.
Bmc Medical Genetics, 2018
Early Onset of Wilson Disease: Diagnostic Challenges.
Wiernicka A et al.
Journal of Pediatric Gastroenterology and Nutrition, 2017
Identification of two novel mutations in the ATP7B gene that cause Wilson's disease.
Zhu HW et al.
World Journal of Pediatrics : Wjp, 2017
Genetic variation spectrum in ATP7B gene identified in Latvian patients with Wilson disease.
Zarina A et al.
Molecular Genetics & Genomic Medicine, 2017
The genetics of Wilson disease.
Chang IJ et al.
Handbook of Clinical Neurology, 2017
ATP7B Gene Mutations in Croatian Patients with Wilson Disease.
Ljubić H et al.
Genetic Testing and Molecular Biomarkers, 2016
Geographic distribution of ATP7B mutations in Wilson disease.
Gomes A et al.
Annals of Human Biology, 2016
Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort.
Guggilla SR et al.
Gene, 2015
Novel mutations of the ATP7B gene in Han Chinese families with pre-symptomatic Wilson's disease.
Yuan ZF et al.
World Journal of Pediatrics : Wjp, 2015
Most frequent mutation c.3402delC (p.Ala1135GlnfsX13) among Wilson disease patients in Venezuela has a wide distribution and two old origins.
Paradisi I et al.
European Journal of Medical Genetics, 2015
Phenotype-genotype correlations in patients with Wilson's disease.
Ferenci P
Annals of the New York Academy of Sciences, 2014
The Pragmatic Treatment of Wilson's Disease.
Aggarwal A et al.
Movement Disorders Clinical Practice, 2014
Phenotype-genotype correlation in Wilson disease in a large Lebanese family: association of c.2299insC with hepatic and of p. Ala1003Thr with neurologic phenotype.
Usta J et al.
Plos One, 2014
Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene.
Bem RS et al.
Arquivos De Neuro-psiquiatria, 2013
Multiplex ARMS PCR to Detect 8 Common Mutations of ATP7B Gene in Patients With Wilson Disease.
Dastsooz H et al.
Hepatitis Monthly, 2013
Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study.
Hofer H et al.
Journal of Human Genetics, 2012
Defining Wilson disease phenotypes: from the patient to the bench and back again.
Ferenci P et al.
Gastroenterology, 2012
Manifestations and evolution of Wilson disease in pediatric patients carrying ATP7B mutation L708P.
Peña-Quintana L et al.
Journal of Pediatric Gastroenterology and Nutrition, 2012
Clinical molecular diagnosis of Wilson disease.
Bennett J et al.
Seminars in Liver Disease, 2011