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
Spectrum and classification of ATP7B variants with clinical correlation in children with Wilson disease.
Al-Obaidi RG et al.
Saudi Medical Journal, 2025
Phenotype and molecular characterization of Wilson's disease in Morocco.
Abbassi N et al.
Clinics and Research in Hepatology and Gastroenterology, 2024
Functional characterization of novel or yet uncharacterized ATP7B missense variants detected in patients with clinical Wilson's disease.
Stalke A et al.
Clinical Genetics, 2023
Homozygous frame shift variant in ATP7B exon 1 leads to bypass of nonsense-mediated mRNA decay and to a protein capable of copper export.
Stalke A et al.
European Journal of Human Genetics : Ejhg, 2019
The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders.
Fieten H et al.
Disease Models & Mechanisms, 2016
Further delineation of the molecular pathology of Wilson disease in the Mediterranean population.
Loudianos G et al.
Human Mutation, 1998
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