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Metabolomics profiles of patients with Wilson disease reveal a distinct metabolic signature

INTRODUCTION: Wilson disease (WD) is characterized by excessive intracellular copper accumulation in liver and brain due to defective copper biliary excretion. With highly varied phenotypes and a lack of biomarkers for the different clinical manifestations, diagnosis and treatment can be difficult....

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I publikationen:Metabolomics
Huvudupphovsmän: Sarode, Gaurav V., Kim, Kyoungmi, Kieffer, Dorothy A., Shibata, Noreene M., Litwin, Tomas, Czlonkowska, Anna, Medici, Valentina
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2019
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Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6568258/
https://ncbi.nlm.nih.gov/pubmed/30868361
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s11306-019-1505-6
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