Associated Papers
Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy.
Imai T et al.
Human Genome Variation, 2024
Navigating the CRISPR/Cas Landscape for Enhanced Diagnosis and Treatment of Wilson's Disease.
Choi W et al.
Cells, 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
Late-onset Wilson Disease in a Patient Followed-up for Nonalcoholic Fatty Liver Disease.
Asano T et al.
Internal Medicine (tokyo, Japan), 2024
Wilson's Disease-Genetic Puzzles with Diagnostic Implications.
Gromadzka G et al.
Diagnostics (basel, Switzerland), 2023
Management Perspective of Wilson's Disease: Early Diagnosis and Individualized Therapy.
Yuan XZ et al.
Current Neuropharmacology, 2021
Late-onset acute liver failure due to Wilson's disease managed by plasmapheresis and hemodiafiltration successfully serving as a bridge for deceased donor liver transplantation: a case report and literature review.
Sukezaki A et al.
Clinical Journal of Gastroenterology, 2020
Wilson disease developing osteoarthritic pain in severe acute liver failure: A case report.
Kido J et al.
World Journal of Hepatology, 2019
Genetics and epigenetic factors of Wilson disease.
Medici V et al.
Annals of Translational Medicine, 2019
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
Carrier frequency of Wilson's disease in the Korean population: a DNA-based approach.
Jang JH et al.
Journal of Human Genetics, 2017
Phenotypes and Chronic Organ Damage May Be Different among Siblings with Wilson's Disease.
Yahata S et al.
Journal of Clinical and Translational Hepatology, 2017
The genetics of Wilson disease.
Chang IJ et al.
Handbook of Clinical Neurology, 2017
Epidemiology and introduction to the clinical presentation of Wilson disease.
Lo C et al.
Handbook of Clinical Neurology, 2017
Geographic distribution of ATP7B mutations in Wilson disease.
Gomes A et al.
Annals of Human Biology, 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
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
Wilson's disease and other neurological copper disorders.
Bandmann O et al.
The Lancet. Neurology, 2015
The Pragmatic Treatment of Wilson's Disease.
Aggarwal A et al.
Movement Disorders Clinical Practice, 2014
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
Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B.
Wan L et al.
Hepatology (baltimore, Md.), 2010
High prevalence of fulminant hepatic failure among patients with mutant alleles for truncation of ATP7B in Wilson's disease.
Okada T et al.
Scandinavian Journal of Gastroenterology, 2010
Current state of Wilson disease patients in central Japan.
Tatsumi Y et al.
Internal Medicine (tokyo, Japan), 2010
[Haplotype analysis at R778L mutation of ATP7B gene in Korean patients with Wilson disease].
Jin HS et al.
The Korean Journal of Hepatology, 2009
Diagnosis of Wilson's disease: a comprehensive review.
Mak CM et al.
Critical Reviews in Clinical Laboratory Sciences, 2008
Genetic background of Japanese patients with adult-onset storage diseases in the liver.
Hayashi H et al.
Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2007
Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing.
Ferenci P
Human Genetics, 2006
Compound overload of copper and iron in patients with Wilson's disease.
Hayashi H et al.
Medical Molecular Morphology, 2006
[Wilson's disease and its pharmacological treatment].
Hayashi H et al.
Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan, 2004
A clinical and genetic study of 56 Saudi Wilson disease patients: identification of Saudi-specific mutations.
Al Jumah M et al.
European Journal of Neurology, 2004
Novel mutations of the ATP7B gene in Japanese patients with Wilson disease.
Kusuda Y et al.
Journal of Human Genetics, 2000
Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.
Okada T et al.
Human Mutation, 2000
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
Haplotype and mutation analysis in Japanese patients with Wilson disease.
Nanji MS et al.
American Journal of Human Genetics, 1997