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
40980162 (PubMed )
Supplement: mmc1.pdf
Clinical and Molecular Spectrum of Wilson Disease in the Arab World: A Systematic Review.
Benzine H et al.
Biochemical Genetics, 2025
Psychiatric Symptoms in Wilson's Disease-Consequence of ATP7B Gene Mutations or Just Coincidence?-Possible Causal Cascades and Molecular Pathways.
Gromadzka G et al.
International Journal of Molecular Sciences, 2024
The Role of Copper Overload in Modulating Neuropsychiatric Symptoms.
Manchia M et al.
International Journal of Molecular Sciences, 2024
The mutation spectrum and ethnic distribution of Wilson disease, a review.
Beyzaei Z et al.
Molecular Genetics and Metabolism Reports, 2024
Mutation spectrum of ATP7B gene in pediatric patients with Wilson disease in Vietnam.
Huong NTM et al.
Molecular Genetics and Metabolism Reports, 2022
Genotype-phenotype variable correlation in Wilson disease: clinical history of two sisters with the similar genotype.
Sapuppo A et al.
Bmc Medical Genetics, 2020
Wilson's disease in Lebanon and regional countries: Homozygosity and hepatic phenotype predominance.
Barada K et al.
World Journal of Gastroenterology, 2017
Geographic distribution of ATP7B mutations in Wilson disease.
Gomes A et al.
Annals of Human Biology, 2016
Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.
Abdel Ghaffar TY et al.
Bmc Pediatrics, 2011
Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease.
Gojová L et al.
Clinical Genetics, 2008
Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations.
Abdelghaffar TY et al.
Journal of Human Genetics, 2008
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
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