Article
The blood copper isotopic composition is a prognostic indicator of the hepatic injury in Wilson disease.
Metallomics : integrated biometal science - 1 Nov 2020
Lamboux Aline, Couchonnal-Bedoya Eduardo, Guillaud Olivier, Laurencin Chloé, Lion-François Laurence, Belmalih Abdelouahed, Mintz Elisabeth, Brun Virginie, Bost Muriel, Lachaux Alain, Balter Vincent
Abstract excerpt
Wilson disease (WD) is an autosomal recessive disorder of copper (Cu) metabolism. The gene responsible for WD, ATP7B, is involved in the cellular transport of Cu, and mutations in the ATP7B gene induce accumulation of Cu in the liver and ultimately in the brain. In a pilot study, the natural variations of copper stable isotope ratios (65Cu/63Cu) in the serum of WD patients have been shown to differ from that of...
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