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
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
Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.
Lang GT et al.
Pathophysiology : the Official Journal of the International Society for Pathophysiology, 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
Targeted genetic screening for identifying carrier status and early-onset disease risks in Chinese newborns.
Hao C et al.
Communications Medicine, 2025
Molecular Characterization of Wilson's Disease in Liver Transplant Patients: A Five-Year Single-Center Experience in Iran.
Beyzaei Z et al.
Diagnostics (basel, Switzerland), 2025
Co-occurrence of Wilson's Disease and Spinocerebellar Ataxia Type 3 in a Chinese Patient.
Xu L et al.
Acta Neurologica Belgica, 2025
A multidisciplinary approach to the diagnosis and management of Wilson disease: 2022 Practice Guidance on Wilson disease from the American Association for the Study of Liver Diseases.
Schilsky ML et al.
Hepatology (baltimore, Md.), 2025
Wilson's Disease Preceded by Schizophrenia-like Symptoms with Frontal-dominant Leukoencephalopathy.
Miyano R et al.
Internal Medicine (tokyo, Japan), 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
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
A single-cell transcriptomic atlas of immune cells in Wilson disease identifies copper-specific immune regulation.
Wang S et al.
Iscience, 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
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
Elderly-onset severe parkinsonism in Wilson disease: A case report.
Li KF et al.
Parkinsonism & Related Disorders, 2025
Elderly-onset severe parkinsonism in Wilson disease: Expert commentary.
Patil L et al.
Parkinsonism & Related Disorders, 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
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
Efficient variant phasing utilizing a replication cycle reaction system.
Mitsutake A et al.
Genetics in Medicine Open, 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
NK cell exhaustion in Wilson's disease revealed by single-cell RNA sequencing predicts the prognosis of cholecystitis.
Jin Y et al.
Elife, 2024
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Clinical and genetic characterization of patients with late onset Wilson's disease.
Yang W et al.
Npj Genomic Medicine, 2024
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
Phenotypic and genetic characterization of children with Wilson Disease from Northeast China.
Zhang T et al.
Bmc Pediatrics, 2024
Clinical characteristics and prognosis of early diagnosed Wilson's disease: A large cohort study.
Li S et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2024
Successful treatment of acute liver failure due to Wilson's disease: Serendipity or fortuity?
Delle Cave V et al.
World Journal of Hepatology, 2024
Assessment the carrier frequency of monogenic diseases in populations requiring assisted reproductive technology.
Xu X et al.
Bmc Medical Genomics, 2024
A novel mutation in the ATP7B gene causing hepatolenticular degeneration in a Chinese family: A case report.
Zhou Z et al.
Medicine, 2024
Distinctive Pattern of Metal Deposition in Neurologic Wilson Disease: Insights From 7T Susceptibility-Weighted Imaging.
Su D et al.
Neurology, 2024
[Genotype-phenotype relationship and genetics study of 115 cases with Wilson's disease].
Xia JK et al.
Zhonghua Gan Zang Bing Za Zhi = Zhonghua Ganzangbing Zazhi = Chinese Journal of Hepatology, 2024
The Role of Copper Overload in Modulating Neuropsychiatric Symptoms.
Manchia M et al.
International Journal of Molecular Sciences, 2024
Phenotype and molecular characterization of Wilson's disease in Morocco.
Abbassi N et al.
Clinics and Research in Hepatology and Gastroenterology, 2024
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
The mutation spectrum and ethnic distribution of Wilson disease, a review.
Beyzaei Z et al.
Molecular Genetics and Metabolism Reports, 2024
Bilateral optic atrophy in Wilson disease: A case report and literature review.
Chen F et al.
Clinics and Research in Hepatology and Gastroenterology, 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
Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening.
Chen T et al.
Jama Network Open, 2023
A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China.
Yang RL et al.
World Journal of Pediatrics : Wjp, 2023
Genetic Movement Disorders Commonly Seen in Asians.
Jagota P et al.
Movement Disorders Clinical Practice, 2023