Associated Papers
Under the dual hit: genetic and phenotypic analysis of a Han family with severe adolescent cirrhosis from the convergence of Wilson's disease and favism.
Xie YQ et al.
Gene, 2026
Mitochondrial deficits and activation of autophagy in human iPSC-derived midbrain dopaminergic progenitors from patients with Wilson's disease.
Wang SH et al.
Stem Cell Research, 2026
The ATP7B c.3316 G > A variant is associated with mild subphenotype in Wilson disease: a single-center cohort study.
Liu L et al.
Orphanet Journal of Rare Diseases, 2026
Genetic variants underlying precancerous conditions of hepatocellular carcinoma.
Guerrero JJG et al.
International Journal of Cancer, 2026
The pathogenesis of liver fibrosis in Wilson's disease: hepatocyte injury and regulation mediated by copper metabolism dysregulation.
Ma Y et al.
Biometals : an International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine, 2026
Applying National Whole-genome Sequencing Findings for Rare Diseases in Clinical Practice: The Imperative of a Multidisciplinary Approach.
Park KS et al.
Annals of Laboratory Medicine, 2026
Gene Editing of Pluripotent Stem Cell-Derived Hepatic Cells for Liver Disease Modeling and Therapeutic Development.
Lim D et al.
Biomolecules & Therapeutics, 2026
Discovery of newborn Wilson disease biomarkers via integrated next-generation sequencing and untargeted metabolomics.
Guan X et al.
Orphanet Journal of Rare Diseases, 2025
Neonatal genetic screening in Changsha: a multicenter study and preliminary findings.
He J et al.
Psychiatric Genetics, 2025
Plasma Glial Fibrillary Acidic Protein Correlates With Brain Metal Burden in Wilson's Disease.
Fan SP et al.
Annals of Clinical and Translational Neurology, 2025
Targeted genetic screening for identifying carrier status and early-onset disease risks in Chinese newborns.
Hao C et al.
Communications Medicine, 2025
Copper in Human Health and Disease: Insights from Inherited Disorders.
Petruzzelli R et al.
Physiology (bethesda, Md.), 2025
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
Clinical characteristics and genetic causes of unexplained pediatric liver disease.
Chen Y et al.
World Journal of Hepatology, 2025
Evaluation of the Relationship Between Neurologic Manifestations and Genetic Mutations in Wilson's Disease with Next-Generation Sequencing.
Akbulut S et al.
Diagnostics (basel, Switzerland), 2025
Pathogenicity analysis and functional prediction of a rare LDLR variant in familial hypercholesterolemia combined with Wilson disease.
Huang S et al.
Genes & Genomics, 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
Clinical application of expanded carrier screening based on next-generation sequencing in the Chinese population.
Lu J et al.
Archives of Gynecology and Obstetrics, 2025
Generation of an induced pluripotent stem cell line from a Wilson's disease patient carrying both c.2333G > T and c.2621C > T mutations.
Zhou D et al.
Stem Cell Research, 2025
Assessment of neurological symptoms and associated factors in patients with Wilson's disease in Southwest China.
Zhang L et al.
Orphanet Journal of Rare Diseases, 2025
A rare presentation of Wilson disease with normal levels of serum ceruloplasmin and copper and MODY: A case report.
Han M et al.
Medicine, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Neuroimaging correlates of genetics in patients with Wilson's disease.
Yu Y et al.
Cerebral Cortex (new York, N.y. : 1991), 2025
Pitfalls in the Diagnosis of Wilson Disease.
Roy D et al.
Current Neurology and Neuroscience Reports, 2025
Predictive Accuracy of a Clinical Model for Carriage of Pathogenic/Likely Pathogenic Variants in Patients with Dementia and a Positive Family History at PUMCH.
Bao J et al.
Biomedicines, 2025
A single-cell transcriptomic atlas of immune cells in Wilson disease identifies copper-specific immune regulation.
Wang S et al.
Iscience, 2025
Effect of newborn genomic screening for lysosomal storage disorders: a cohort study in China.
Wang X et al.
Genome Medicine, 2025
From severe aplastic anemia with TERT variant to Wilson disease - associations or not.
Chen T et al.
Annals of Hematology, 2025
Clinical Characteristics, Treatment Effects and Risk Factors of Liver Cirrhosis in Patients with Wilson's Disease Hepatic Type.
Lu YJ et al.
Journal of Clinical and Translational Hepatology, 2025
Clinical experience of the expanded carrier screening for recessive genetic diseases in a large cohort study in Southern central China.
Pan L et al.
Scientific Reports, 2025
Clinical and Molecular Spectrum of Wilson Disease in the Arab World: A Systematic Review.
Benzine H et al.
Biochemical Genetics, 2025
Pathogenicity analysis of ATP7B in pediatric patients with Wilson's disease and functional verification of alternative splice variants.
Wang Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025
Evaluation of efficacy and safety of AAV8-ΔC4ATP7B gene therapy in a mutant mouse model of Wilson's disease.
Zeng C et al.
Molecular Therapy. Methods & Clinical Development, 2025
EASL-ERN Clinical Practice Guidelines on Wilson's disease.
Unknown Author
Journal of 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
Case report: Co-occurrence of Wilson's and Alexander's diseases revealed by genetic analysis.
Ge S et al.
Frontiers in Neurology, 2025
Co-occurrence of Wilson's disease and Duchenne muscular dystrophy in a Chinese patient: a case report.
Wang J et al.
Frontiers in Pediatrics, 2025
Current Management of Neurological Wilson's Disease.
Ganaraja VH et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2025
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport Activities.
Calvo JS et al.
Human Mutation, 2025
Clinical and Genetic Profile of Pediatric and Adult Wilson's Disease in India.
Kulkarni AV et al.
Gastro Hep Advances, 2025