Associated Papers
Rare diseases load through the study of a regional population.
Michel É et al.
Plos Genetics, 2025
The variable manifestations of disease in pyruvate kinase deficiency and their management.
Al-Samkari H et al.
Haematologica, 2020
Erythrocytapheresis as a novel treatment option for adult patients with pyruvate kinase deficiency.
Jensen RFG et al.
Haematologica, 2020
Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.
Bianchi P et al.
American Journal of Hematology, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
AG-348 enhances pyruvate kinase activity in red blood cells from patients with pyruvate kinase deficiency.
Kung C et al.
Blood, 2017
Molecular characterisation of pyruvate kinase deficiency--concerns about the description of mutant PKLR alleles.
van Wijk R et al.
British Journal of Haematology, 2007
Mining for allosteric information: natural mutations and positional sequence conservation in pyruvate kinase.
Pendergrass DC et al.
Iubmb Life, 2006
Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia.
Valentini G et al.
The Journal of Biological Chemistry, 2002
Molecular modelling of human red blood cell pyruvate kinase: structural implications of a novel G1091 to a mutation causing severe nonspherocytic hemolytic anemia.
van Solinge WW et al.
Blood, 1997
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