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

No abstract is available for this paper.

• Publication year

  1997

• Venue

  Blood

• Publication date

  1997-03-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1182/BLOOD.V89.5.1793.1793_1793_1799PMID 9057665
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Compound heterozygous mutations affecting both hepatic and erythrocyte isozymes of pyruvate kinase.

  1995cited by this paper
• Study of the molecular defects in pyruvate kinase deficient patients affected by nonspherocytic hemolytic anemia.

  1995cited by this paper
• Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia.

  1995cited by this paper
• Molecular Abnormality of Erythrocyte Pyruvate Kinase Deficiency in the Amish

  1994cited by this paper
• Hereditary hemolytic anemia caused by diverse point mutations of pyruvate kinase gene found in Japan and Hong Kong.

  1994cited by this paper
• Prenatal diagnosis of pyruvate kinase deficiency.

  1994cited by this paper
• Mutations in the pyruvate kinase L gene in patients with hereditary hemolytic anemia.

  1994cited by this paper
• Two dinucleotide repeat polymorphisms at the DMD locus.

  1994cited by this paper
• Mutations in the R-type pyruvate kinase gene and altered enzyme kinetic properties in patients with hemolytic anemia due to pyruvate kinase deficiency

  1994cited by this paper
• Trinucleotide repeat polymorphism at the PKLR locus.

  1994cited by this paper
• Hereditary hemolytic anemia caused by diverse point mutations of pyruvate kinase gene found in Japan and Hong Kong

  1994cited by this paper
• Molecular abnormality of erythrocyte pyruvate kinase deficiency in the Amish.

  1994cited by this paper
• Low substrate affinity of pyruvate kinase variant (PK Sapporo) caused by a single amino acid substitution (426 Arg-->Gln) associated with hereditary hemolytic anemia.

  1993cited by this paper
• Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia.

  1993cited by this paper
• A suggested nomenclature for designating mutations

  1993cited by this paper
• 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.

  1993cited by this paper
• Identical point mutations of the R-type pyruvate kinase (PK) cDNA found in unrelated PK variants associated with hereditary hemolytic anemia.

  1992cited by this paper
• Structural analysis of human pyruvate kinase L-gene and identification of the promoter activity in erythroid cells.

  1992cited by this paper
• The spectrum of cystic fibrosis mutations.

  1992cited by this paper
• 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.

  1991cited by this paper
• Point mutations in the L-type pyruvate kinase gene of two children with hemolytic anemia caused by pyruvate kinase deficiency.

  1991cited by this paper
• Microheterogeneity of human erythrocyte pyruvate kinase: Application of immunological visualization techniques after isoelectric focusing in ultrathin gels

  1990cited by this paper
• Human liver type pyruvate kinase: complete amino acid sequence and the expression in mammalian cells.

  1988cited by this paper
• The structure of cat muscle pyruvate kinase.

  1986cited by this paper
• Seven Pyruvate Kinase Variants Characterized by the ICSH Recommended Methods

  1980cited by this paper
• Recommended Methods for the Characterization of Red Cell Pyruvate Kinase Variants *

  1979cited by this paper
• Hereditary Pyruvate Kinase Deficiency: Role of the Abnormal Enzyme in Red Cell Pathophysiology

  1978cited by this paper
• [Hereditary hemolytic anemia].

  1971cited by this paper
• A specific erythrocyte glycolytic enzyme defect (pyruvate kinase) in three subjects with congenital non-spherocytic hemolytic anemia.

  1961cited by this paper

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  2025cites this paper
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  2024cites this paper
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  2024cites this paper
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  2023cites this paper
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  2022cites this paper
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  2021cites this paper
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  2020cites this paper
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  2018cites this paper
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  2018cites this paper
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  2018cites this paper
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  2017cites this paper
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  2017cites this paper
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  2017cites this paper
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  2017cites this paper
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  2017cites this paper
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  2016cites this paper
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  2016cites this paper
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  2015cites this paper
• Pyruvate Kinase M2: A Metabolic Tuner

  2015cites this paper
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  2014cites this paper
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  2014cites this paper
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  2013cites this paper
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  2013cites this paper
• Red cell pyruvate kinase deficiency in Southern Sardinia.

  2010cites this paper
• Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: Structural implications of amino acid substitutions in PK

  2009cites this paper
• Rescue of pyruvate kinase deficiency in mice by gene therapy using the human isoenzyme.

  2009cites this paper
• Red cell enzyme deficiencies: molecular and clinical aspects

  2009cites this paper
• Prevalence of pyruvate kinase deficiency among the south Iranian population: quantitative assay and molecular analysis.

  2008cites this paper
• Erythrocyte disorders in the perinatal period.

  2007cites this paper
• Pyruvate kinase deficiency: the genotype-phenotype association.

  2007cites this paper
• In Vitro and In Vivo Expression of Human Erythrocyte Pyruvate Kinase in Erythroid Cells: A Gene Therapy Approach

  2007cites this paper
• Erythrocyte Disorders in the Perinatal Period in Adverse Pregnancy Outcome and the Fetus/Neonate

  2007cites this paper
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  2006cites this paper
• A Novel Homozygous Mutation of PKLR Gene in a Pyruvate-Kinase-Deficient Korean Family

  2005cites this paper
• Red cell pyruvate kinase deficiency: molecular and clinical aspects

  2005influential citation
• The energy-less red blood cell is lost: erythrocyte enzyme abnormalities of glycolysis.

  2005cites this paper
• The energy-less red blood cell is lost: erythrocyte enzyme abnormalities of glycolysis

  2005cites this paper
• Life-threatening nonspherocytic hemolytic anemia in a patient with a null mutation in the PKLR gene and no compensatory PKM gene expression.

  2005cites this paper
• Liver cirrhosis as a consequence of iron overload caused by hereditary nonspherocytic hemolytic anemia.

  2005cites this paper
• Molecular mechanisms of disease in hereditary red blood cell enzymopathies

  2004cites this paper
• Anemias: A Clinical Laboratory Perspective

  2004cites this paper
• CHAPTER 4 Fourteen novel mutations in PKLR associated with pyruvate kinase deficiency

  2004cites this paper
• Pyruvate kinase deficiency in pregnancy complicated by iron overload

  2002cites this paper
• Human erythrocyte pyruvate kinase: characterization of the recombinant enzyme and a mutant form (R510Q) causing nonspherocytic hemolytic anemia.

  2001cites this paper
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  2001cites this paper
• Genetics of iron storage and hemochromatosis.

  2001cites this paper
• Population Genetics of Four PKLR Intragenic Polymorphisms in Portugal and Sao Tome e Principe (Gulf of Guinea)

  2001cites this paper
• Biochemical and genetic basis of red cell enzyme deficiencies.

  2000cites this paper
• Hereditäre Membrandefekte und Enzymopathien roter Blutzellen

  2000cites this paper
• Glucose-6-phosphate isomerase deficiency.

  2000cites this paper
• Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population.

  2000cites this paper
• Red cell pyruvate kinase deficiency: from genetics to clinical manifestations.

  2000cites this paper
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  2000cites this paper
• Pyruvate Kinase Deficiency which Causes Nonspherocytic Hemolytic Anemia: The Gene and its Mutations.

  1999cites this paper
• PK‐LR gene mutations in pyruvate kinase deficient Portuguese patients

  1999cites this paper
• [Molecular study of red cell pyruvate kinase deficiency in 15 patients with chronic hemolytic anemia. Group of Erythropathology of Hematology and hemotherapy Association of Spain (HHAS)].

  1999cites this paper
• The molecular basis of disorders of red cell enzymes.

  1999cites this paper
• Molecular characterization of the PK‐LR gene in pyruvate kinase deficient Spanish patients

  1998cites this paper
• Red cell enzyme deficiencies: from genetic basis to gene transfer.

  1998cites this paper
• Hematologically important mutations: red cell pyruvate kinase (Third update).

  1998cites this paper
• Hematologically important mutations: red cell pyruvate kinase (2nd update).

  1998cites this paper
• Severe pyruvate kinase deficiency anemia. A case report.

  1998cites this paper
• Six previously undescribed pyruvate kinase mutations causing enzyme deficiency.

  1998cites this paper
• Glucosephosphate isomerase (GPI) deficiency mutations associated with hereditary nonspherocytic hemolytic anemia (HNSHA).

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

  1997cites this paper
• Complete genomic sequence of the human PK-L/R-gene includes four intragenic polymorphisms defining different haplotype backgrounds of normal and mutant PK-genes.

  1997cites this paper
• Hematologically important mutations: red cell pyruvate kinase.

  1996cites this paper
• Hematologically important mutations: red cell pyruvate kinase (1st update).

  1996cites this paper