Associated Papers
Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.
Gök V et al.
British Journal of Haematology, 2024
Neonatal Thrombocytopenia as a Presenting Finding in de novo Pyruvate Kinase Deficiency.
Dulmovits BM et al.
Neonatology, 2023
Oxidative DNA Damage, Inflammatory Signature, and Altered Erythrocytes Properties in Diamond-Blackfan Anemia.
Kapralova K et al.
International Journal of Molecular Sciences, 2020
33348919 (PubMed )
Supplement: ijms-21-09652-s001.pdf
Iron status in patients with pyruvate kinase deficiency: neonatal hyperferritinaemia associated with a novel frameshift deletion in the PKLR gene (p.Arg518fs), and low hepcidin to ferritin ratios.
Mojzikova R et al.
British Journal of Haematology, 2014
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