Associated Papers
Case report: Compound heterozygosity in PKLR gene with a large exon deletion and a novel rare p.Gly536Asp variant as a cause of severe pyruvate kinase deficiency.
Kim M et al.
Frontiers in Pediatrics, 2022
Molecular heterogeneity of pyruvate kinase deficiency.
Bianchi P et al.
Haematologica, 2020
Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.
Bianchi P et al.
American Journal of Hematology, 2020
Targeted next generation sequencing for the diagnosis of patients with rare congenital anemias.
Shefer Averbuch N et al.
European Journal of Haematology, 2018
Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias.
Russo R et al.
American Journal of Hematology, 2018
AG-348 enhances pyruvate kinase activity in red blood cells from patients with pyruvate kinase deficiency.
Kung C et al.
Blood, 2017
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
Mining for allosteric information: natural mutations and positional sequence conservation in pyruvate kinase.
Pendergrass DC et al.
Iubmb Life, 2006
Red cell pyruvate kinase deficiency: molecular and clinical aspects.
Zanella A et al.
British Journal of Haematology, 2005
Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia.
Valentini G et al.
The Journal of Biological Chemistry, 2002
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