Associated Papers
Relative exchangeable copper: A highly specific and sensitive biomarker for Wilson disease diagnosis.
Djebrani-Oussedik N et al.
Jhep Reports : Innovation in Hepatology, 2025
Copper Deficiency in Wilson's Disease with a Normal Zinc Value.
Ueda M et al.
Internal Medicine (tokyo, Japan), 2023
Retinoids rescue ceruloplasmin secretion and alleviate oxidative stress in Wilson's disease-specific hepatocytes.
Song D et al.
Human Molecular Genetics, 2022
Genetic studies discover novel coding and non-coding mutations in patients with Wilson's disease in China.
Huang C et al.
Journal of Clinical Laboratory Analysis, 2022
Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.
Li M et al.
Bmc Gastroenterology, 2021
Prevalence of Wilson disease based on genome databases in Japan.
Yamaguchi H et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2021
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.
Seo GH et al.
Clinical Genetics, 2020
Late Diagnosis of Wilson Disease, Initially Presenting as Cerebellar Atrophy Mimicking Spinocerebellar Ataxia, by Multigene Panel Testing.
Kim MK et al.
Annals of Laboratory Medicine, 2020
Biochemical and molecular characterisation of neurological Wilson disease.
Seo GH et al.
Journal of Medical Genetics, 2018
Multiplex Ligation-dependent Probe Amplification Analysis Subsequent to Direct DNA Full Sequencing for Identifying ATP7B Mutations and Phenotype Correlations in Children with Wilson Disease.
Shim JO et al.
Journal of Korean Medical Science, 2018
Epidemiology and introduction to the clinical presentation of Wilson disease.
Lo C et al.
Handbook of Clinical Neurology, 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
Acute Hepatic Phenotype of Wilson Disease: Clinical Features of Acute Episodes and Chronic Lesions Remaining in Survivors.
Hayashi H et al.
Journal of Clinical and Translational Hepatology, 2015
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Integrated exome and transcriptome sequencing reveals ZAK isoform usage in gastric cancer.
Liu J et al.
Nature Communications, 2014
Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population.
Song MJ et al.
Journal of Human Genetics, 2012
Potential of the international scoring system for the diagnosis of Wilson disease to differentiate Japanese patients who need anti-copper treatment.
Tatsumi Y et al.
Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2011
Special stain and X-ray probe microanalysis of livers with Wilson disease.
Hayashi H et al.
Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2009
Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease.
Park S et al.
Human Mutation, 2007
Structure of the ATP binding domain from the Archaeoglobus fulgidus Cu+-ATPase.
Sazinsky MH et al.
The Journal of Biological Chemistry, 2006
Molecular analysis and diagnosis in Japanese patients with Wilson's disease.
Shimizu N et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 1999
Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outpatient clinics.
Ohura T et al.
Journal of Inherited Metabolic Disease, 1999
Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.
Shah AB et al.
American Journal of Human Genetics, 1997