Condition: Deficiency of pyruvate kinase


rs1035640530 in PKLR gene and Deficiency of pyruvate kinase PMID 8180378 1994 Mutations in the pyruvate kinase L gene in patients with hereditary hemolytic anemia.

PMID 9482576 1998 Novel mutations and structural implications in R-type pyruvate kinase-deficient patients from Southern Italy.

PMID 8161798 1994 Molecular abnormality of erythrocyte pyruvate kinase deficiency in the Amish.

PMID 8483951 1993 Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia.

PMID 9886305 1998 A new sickle cell disease phenotype associating Hb S trait, severe pyruvate kinase deficiency (PK Conakry), and an alpha2 globin gene variant (Hb Conakry).

PMID 8481523 1993 Low substrate affinity of pyruvate kinase variant (PK Sapporo) caused by a single amino acid substitution (426 Arg-->Gln) associated with hereditary hemolytic anemia.

PMID 9827908 1998 Molecular characterization of the PK-LR gene in pyruvate kinase deficient Spanish patients. Red Cell Pathology Group of the Spanish Society of Haematology (AEHH).

PMID 8476433 1993 Molecular basis of impaired pyruvate kinase isozyme conversion in erythroid cells: a single amino acid substitution near the active site and decreased mRNA content of the R-type PK.

PMID 11328279 2001 Molecular characterization of the PK-LR gene in sixteen pyruvate kinase-deficient patients.

PMID 21794208 2011 Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications.

PMID 1536957 1992 Identical point mutations of the R-type pyruvate kinase (PK) cDNA found in unrelated PK variants associated with hereditary hemolytic anemia.

PMID 2018831 1991 Point mutations in the L-type pyruvate kinase gene of two children with hemolytic anemia caused by pyruvate kinase deficiency.

PMID 19085939 2009 Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid substitutions in PK.

PMID 7706479 1995 Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia.

PMID 11960989 2002 Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia.

PMID 1896471 1991 cDNA cloning of human R-type pyruvate kinase and identification of a single amino acid substitution (Thr384----Met) affecting enzymatic stability in a pyruvate kinase variant (PK Tokyo) associated with hereditary hemolytic anemia.

PMID 21815188 2011 Erythrocyte pyruvate kinase deficiency in an old-order Amish cohort: longitudinal risk and disease management.

PMID 9389718 1997 Molecular modelling of human red blood cell pyruvate kinase: structural implications of a novel G1091 to a mutation causing severe nonspherocytic hemolytic anemia.

PMID 26658699 2015 Modulation of Malaria Phenotypes by Pyruvate Kinase (PKLR) Variants in a Thai Population.

PMID 12393511 2003 The paternal allele exhibited the common PKLR cDNA sequence (c.) 1529G>A mutation, known to be associated with PK deficiency.

PMID 11698298 2001 Human erythrocyte pyruvate kinase: characterization of the recombinant enzyme and a mutant form (R510Q) causing nonspherocytic hemolytic anemia.

PMID 9057665 1997 Molecular analysis of 29 pyruvate kinase-deficient patients from central Europe with hereditary hemolytic anemia.

PMID 27871768 2017 Red cell pyruvate kinase deficiency in Spain: A study of 15 cases.

PMID 26728349 2016 Two Novel Missense Mutations and a 5bp Deletion in the Erythroid-Specific Promoter of the PKLR Gene in Two Unrelated Patients With Pyruvate Kinase Deficient Transfusion-Dependent Chronic Nonspherocytic Hemolytic Anemia.

PMID 27346685 2016 Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits.

PMID 18759866 2009 Spectrum of novel mutations in the human PKLR gene in pyruvate kinase-deficient Indian patients with heterogeneous clinical phenotypes.

PMID 11054094 2000 A new PKLR gene mutation in the R-type promoter region affects the gene transcription causing pyruvate kinase deficiency.

PMID 28133914 2017 Molecular basis of pyruvate kinase deficiency among Tunisians: description of new mutations affecting coding and noncoding regions in the PKLR gene.

PMID 16704447 2006 Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations.

PMID 17574881 2007 Pyruvate kinase deficient hemolytic anemia in the Northern Irish population.

PMID 7948315 1994 Mutations in the R-type pyruvate kinase gene and altered enzyme kinetic properties in patients with hemolytic anemia due to pyruvate kinase deficiency.

PMID 7655861 1995 Study of the molecular defects in pyruvate kinase deficient patients affected by nonspherocytic hemolytic anemia.

PMID 7919353 1994 Prenatal diagnosis of pyruvate kinase deficiency.