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- W4328014559 abstract "Background Aceruloplasminemia is a recessive disease, caused by pathogenic variants in the ceruloplasmin gene (CP). The disease is characterized by iron accumulation in liver, pancreas and brain. Early biochemical signs include hyperferritinemia and low transferrin saturation. Heterozygous variants in CP have been recently identified to predispose to hyperferritinemia, hepatic siderosis and fibrosis progression in patients with non-alcoholic fatty liver." @default.
- W4328014559 created "2023-03-22" @default.
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- W4328014559 date "2022-08-01" @default.
- W4328014559 modified "2023-09-27" @default.
- W4328014559 title "Evaluation of the clinical impact of the Ceruloplasmin variant p.Thr551Ile in liver cirrhosis" @default.
- W4328014559 doi "https://doi.org/10.1055/s-0042-1755785" @default.
- W4328014559 hasPublicationYear "2022" @default.
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