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
Spectrum and classification of ATP7B variants with clinical correlation in children with Wilson disease.
Al-Obaidi RG et al.
Saudi Medical Journal, 2025
Role of RNA Alternative Splicing in T Cell Function and Disease.
Banerjee S et al.
Genes, 2023
Benefits of using exchangeable copper and the ratio of exchangeable copper in a real-world cohort of patients with Wilson disease.
Mariño Z et al.
Journal of Inherited Metabolic Disease, 2023
Clinical spectrum and genotype-phenotype associations in Finnish patients with Wilson's disease.
Sipilä JOT et al.
Journal of the Neurological Sciences, 2023
Pediatric Wilson's Disease: Phenotypic, Genetic Characterization and Outcome of 182 Children in France.
Couchonnal E et al.
Journal of Pediatric Gastroenterology and Nutrition, 2021
Genetics of Wilson disease and Wilson-like phenotype in a clinical series from eastern Spain.
Sánchez-Monteagudo A et al.
Clinical Genetics, 2020
Identification of two novel mutations in the ATP7B gene that cause Wilson's disease.
Zhu HW et al.
World Journal of Pediatrics : Wjp, 2017
Mutational characterization of ATP7B gene in 103 Wilson's disease patients from Southern China: identification of three novel mutations.
Wei Z et al.
Neuroreport, 2014
Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease.
Weiss KH et al.
Journal of Inherited Metabolic Disease, 2010
Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease.
Merle U et al.
Bmc Gastroenterology, 2010
Wilson disease in children: analysis of 57 cases.
Manolaki N et al.
Journal of Pediatric Gastroenterology and Nutrition, 2009
Mutation analysis of Wilson disease in the Spanish population -- identification of a prevalent substitution and eight novel mutations in the ATP7B gene.
Margarit E et al.
Clinical Genetics, 2005
Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B).
Panagiotakaki E et al.
American Journal of Medical Genetics. Part A, 2004