Article
Diagnostic Accuracy of Exchangeable Copper for Grading the Severity of Wilson Disease.
Journal of inherited metabolic disease - 1 May 2026
Desjardins Clément, Oussedik-Djebrani Nouzha, Obadia Mickael Alexandre, Rahli Djamila, Le Cossec Chloé, Woimant France, Debray Dominique, Poujois Aurélia
Abstract excerpt
Wilson disease (WD) diagnosis remains challenging due to variable biomarker performance across clinical presentations. Exchangeable copper (CuEXC) directly quantifies non-ceruloplasmin-bound copper (NCC), the pathogenic copper fraction. We assessed the diagnostic accuracy of CuEXC across WD phenotypes and its utility for evaluating disease severity. In this prospective study (NCT05231876) at the French National...
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