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Browsing by Subject "Oxidative stress"

Browsing by Subject "Oxidative stress"

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    Mechanistic insights into the role of KMT2D in Kabuki syndrome 1 
    Halldórsdóttir, Sara Tholl (University of Iceland, School of Health Sciences, Faculty of Medicine, 2025-06)
    Kabuki syndrome type 1 (KS1) is a Mendelian disorder of the epigenetic machinery (MDEM) caused by heterozygous pathogenic variants in the histone methyltransferase 2 D (KMT2D). KS is a multi-organ disorder with variable phenotypic presentations among ...
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    Studies on treatment of renal anemia in patients on chronic hemodialysis 
    Stefnánsson, Bergur V. (University of Gothenburg. Sahlgrenska Academy, 2011)
    In patients with chronic kidney disease, treatment with erythropoiesis-stimulating agents (ESA) effectively corrects anemia. Most of these patients also need supplementation with regular iron injections to secure iron availability for proper ...