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Relative exchangeable copper: A valuable tool for the diagnosis of Wilson disease.
Guillaud O, Brunet AS, Mallet I, Dumortier J, Pelosse M, Heissat S, Rivet C, Lachaux A, Bost M. Guillaud O, et al. Liver Int. 2018 Feb;38(2):350-357. doi: 10.1111/liv.13520. Epub 2017 Aug 23. Liver Int. 2018. PMID: 28719006
BACKGROUND & AIMS: Measuring of the relative exchangeable copper seems to be a promising tool for the diagnosis of Wilson disease. ...CONCLUSIONS: Our study confirms that the determination of relative exchangeable copper is a highly v …
BACKGROUND & AIMS: Measuring of the relative exchangeable copper seems to be a promising tool for the diagnosis of …
Evaluation of the accuracy of exchangeable copper and relative exchangeable copper (REC) in a mouse model of Wilson's disease.
Heissat S, Harel A, Um K, Brunet AS, Hervieu V, Guillaud O, Dumortier J, Lachaux A, Mintz E, Bost M. Heissat S, et al. J Trace Elem Med Biol. 2018 Dec;50:652-657. doi: 10.1016/j.jtemb.2018.06.013. Epub 2018 Jun 21. J Trace Elem Med Biol. 2018. PMID: 30269758
Wilson's disease (WD) is caused by mutations in the ATP7B gene responsible for a toxic copper overload mainly in the liver and the central nervous system. Phenotypic heterogeneity may challenge the diagnostic confirmation. Exchangeable copper (CuEXC) h …
Wilson's disease (WD) is caused by mutations in the ATP7B gene responsible for a toxic copper overload mainly in the liver and …
Non-invasive diagnosis and follow-up of rare genetic liver diseases.
Sobesky R, Guillaud O, Bouzbib C, Sogni P, Poujois A, Woimant F, Duclos-Vallée JC, Bourlière M, de Lédinghen V, Ganne-Carrié N, Bureau C. Sobesky R, et al. Clin Res Hepatol Gastroenterol. 2022 Jan;46(1):101768. doi: 10.1016/j.clinre.2021.101768. Epub 2021 Jul 29. Clin Res Hepatol Gastroenterol. 2022. PMID: 34332127
Rare genetic liver diseases can result in multi-systemic damage, which may compromise the patient's prognosis. Wilson's disease and alpha-1 antitrypsin deficiency must be investigated in any patient with unexplained liver disease. ...The diagnosis is based on a comb …
Rare genetic liver diseases can result in multi-systemic damage, which may compromise the patient's prognosis. Wilson's diseas …