Red cell pyruvate kinase deficiency: from genetics to clinical manifestations.

No abstract is available for this paper.

• Publication year

  2000

• Venue

  Baillière's Best Practice & Research: Clinical Haematology

• Publication date

  2000-03-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1053/BEHA.1999.0057PMID 10916678
• 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.

• Chronic haemolytic anaemia in two patients heterozygous for erythrocyte pyruvate kinase deficiency. Electrofocusing and immunological studies of erythrocyte and liver pyruvate kinase.

  2009cited by this paper
• The Allosteric Regulation of Pyruvate Kinase

  2000cited by this paper
• Eight novel mutations and consequences on mRNA and protein level in pyruvate kinase‐deficient patients with nonspherocytic hemolytic anemia

  2000cited by this paper
• PK‐LR gene mutations in pyruvate kinase deficient Portuguese patients

  1999cited by this paper
• Identification of a novel promoter mutation in the human pyruvate kinase (PK) LR gene of a patient with severe haemolytic anaemia

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

  1998cited by this paper
• The allosteric regulation of pyruvate kinase by fructose-1,6-bisphosphate.

  1998cited by this paper
• A new sickle cell disease phenotype associating Hb S trait, severe pyruvate kinase deficiency (PK Conakry), and an α2 globin gene variant (Hb Conakry)

  1998cited by this paper
• Novel mutations and structural implications in R‐type pyruvate kinase‐deficient patients from southern Italy

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

  1998cited by this paper
• PYRUVATE KINASE DEFICIENCY: AN UNUSUAL CAUSE OF PUERPERAL JAUNDICE

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

  1998cited by this paper
• Bone marrow, peripheral blood and cord blood stem cell transplantation in children: ten years' experience at Siriraj Hospital.

  1998cited by this paper
• Phosphatidylserine exposure and red cell viability in red cell aging and in hemolytic anemia.

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

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

  1998cited by this paper
• Erythrocyte pyruvate kinase- and glucose phosphate isomerase deficiency: perturbation of glycolysis by structural defects and functional alterations of defective enzymes and its relation to the clinical severity of chronic hemolytic anemia.

  1997cited by this paper
• Molecular analysis of 29 pyruvate kinase-deficient patients from central Europe with hereditary hemolytic anemia.

  1997cited by this paper
• Molecular characterization of PK-LR gene in pyruvate kinase-deficient Italian patients.

  1997cited by this paper
• Frame shift mutation, exon skipping, and a two-codon deletion caused by splice site mutations account for pyruvate kinase deficiency.

  1997cited by 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.

  1997cited by this paper
• G→T transition at cDNA nt 110 (K37Q) in the PKLR (pyruvate kinase) gene is the molecular basis of a case of hereditary increase of red blood cell ATP

  1997cited by 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.

  1997cited by this paper
• Refined three-dimensional structure of cat-muscle (M1) pyruvate kinase at a resolution of 2.6 A.

  1996cited by this paper
• Five unknown mutations in the LR pyruvate kinase gene associated with severe hereditary nonspherocytic haemolytic anaemia in France

  1996cited by this paper
• PK MONDOR: PRENATAL DIAGNOSIS OF A FRAMESHIFT MUTATION IN THE LR PYRUVATE KINASE GENE ASSOCIATED WITH SEVERE HEREDITARY NON‐SPHEROCYTIC HAEMOLYTIC ANAEMIA

  1996cited by this paper
• The allosteric regulation of pyruvate kinase

  1996cited by this paper
• Study of the molecular defects in pyruvate kinase deficient patients affected by nonspherocytic hemolytic anemia.

  1995cited by this paper
• Crystal structure of Escherichia coli pyruvate kinase type I: molecular basis of the allosteric transition.

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

  1995cited by this paper
• Compound heterozygous mutations affecting both hepatic and erythrocyte isozymes of pyruvate kinase.

  1995cited by this paper
• Molecular abnormality of erythrocyte pyruvate kinase deficiency in the Amish.

  1994cited by this paper
• Molecular Abnormality of Erythrocyte Pyruvate Kinase Deficiency in the Amish

  1994cited by this paper
• The molecular basis of canine pyruvate kinase deficiency.

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

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

  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
• Structure of rabbit muscle pyruvate kinase complexed with Mn2+, K+, and pyruvate.

  1994cited by this paper
• Retrovirus-mediated gene transfer of human pyruvate kinase (PK) cDNA into murine hematopoietic cells: implications for gene therapy of human PK deficiency.

  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
• Pyruvate kinase deficiency: Historical perspective and recent progress of molecular genetics

  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
• Iron status in red cell pyruvate kinase deficiency: study of Italian cases

  1993cited by this paper
• Fetal anaemia due to pyruvate kinase deficiency.

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

  1993cited 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
• Structural analysis of human pyruvate kinase L-gene and identification of the promoter activity in erythroid cells.

  1992cited 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
• 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
• Red cell enzymopathies of the glycolytic pathway.

  1990cited by this paper
• Red cell enzymopathies of the glycolytic pathway.

  1990cited by this paper
• Hydrops fetalis associated with red cell pyruvate kinase deficiency.

  1990cited by this paper
• Congenital non-spherocytic haemolytic anaemias.

  1989cited by this paper
• The Hereditary Hemolytic Anemias

  1989cited by this paper
• Human M2-type pyruvate kinase: cDNA cloning, chromosomal assignment and expression in hepatoma.

  1988cited by this paper
• Erythrocyte pyruvate kinase deficiency: 11 new cases

  1988cited by this paper
• Impaired erythrocyte phosphoribosylpyrophosphate formation in hemolytic anemia due to pyruvate kinase deficiency.

  1988cited by this paper
• The human liver-type pyruvate kinase (PKL) gene is on chromosome 1 at band q21.

  1988cited by this paper
• Human liver type pyruvate kinase: complete amino acid sequence and the expression in mammalian cells.

  1988cited by this paper
• 2,3‐DIPHOSPHOGLYCERATE AND 3‐PHOSPHOGLYCERATE IN RED CELL PYRUVATE KINASE DEFICIENCY

  1988cited by this paper
• The L- and R-type isozymes of rat pyruvate kinase are produced from a single gene by use of different promoters.

  1987cited by this paper
• Red cell 3‐phosphoglycerate level as a diagnostic aid in pyruvate kinase deficiency

  1987cited by this paper
• Impaired nicotinamide adenine dinucleotide synthesis in pyruvate kinase-deficient human erythrocytes: a mechanism for decreased total NAD content and a possible secondary cause of hemolysis.

  1987cited by this paper
• The M1- and M2-type isozymes of rat pyruvate kinase are produced from the same gene by alternative RNA splicing.

  1986cited by this paper
• The structure of cat muscle pyruvate kinase.

  1986cited by this paper
• Decrease in subunit aggregation of phosphoribosylpyrophosphate synthetase: a mechanism for decreased nucleotide concentrations in pyruvate kinase-deficient human erythrocytes.

  1986cited by this paper
• Regulatory properties of human erythrocyte hexokinase during cell ageing.

  1985cited by this paper
• Red Cell Metabolism. A Manual of Biochemical Methods. 3rd Edition

  1985cited by this paper
• Pattern of pyruvate kinase isozymes in erythroleukemia cell lines and in normal human erythroblasts.

  1984cited by this paper
• Changes in activities and isozyme patterns of glycolytic enzymes during erythroid differentiation in vitro.

  1984cited by this paper
• Change of pyruvate kinase isozymes from M2‐ to L‐type during development of the red cell

  1983cited by this paper
• Increased adsorption of cytoplasmic proteins to the erythrocyte membrane in ATP‐depleted normal and pyruvate kinase‐deficient mature cells and reticulocytes

  1983cited by this paper
• Inhibition of the pentose phosphate shunt by 2,3‐diphosphoglycerate in erythrocyte pyruvate kinase deficiency

  1983cited by this paper
• [Hereditary haemolytic anaemia due to pyruvate kinase deficiency. Prognosis of neonatal forms (author's transl)].

  1982cited by this paper
• Diagnostic strategy in a suspected red cell enzymopathy.

  1981cited by this paper
• Diagnostic strategy in a suspected red cell enzymopathy.

  1981cited by this paper
• The primary cause of hemolysis in enzymopathies of anaerobic glycolysis: a viewpoint.

  1980cited by this paper
• The primary cause of hemolysis in enzymopathies of anaerobic glycolysis: a viewpoint.

  1980cited by this paper
• Membrane Abnormalities of Pyruvate Kinase Deficient Red Cells

  1979cited 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
• Erythrocyte Populations in Pyruvate Kinase Deficiency Anaemia following Splenectomy

  1978cited by this paper
• The genetic system of the L-type pyruvate kinase forms in man. Subunit structure, interrelation and kinetic characteristics of the pyruvate kinase enzymes from erythrocytes and liver.

  1978cited by this paper
• Editorial: Why has the autohemolysis test not gone the way of the cephalin flocculation test?

  1978cited by this paper
• Hereditary persistence of fetal erythrocyte pyruvate kinase in the Basenji dog.

  1978cited by this paper
• Erythrocyte Populations in Pyruvate Kinase Deficiency Anaemia Following Splenectomy

  1978cited by this paper
• An isozyme of erythrocyte pyruvate kinase (PK-Los Angeles) with impaired kinetics corrected by fructose-1, 6-diphosphate.

  1977cited by this paper
• Evidence for a postsynthetic proteolytic transformation of human erythrocyte pyruvate kinase into L‐type enzyme

  1977cited by this paper
• Characterization of pyruvate kinase from the liver of a patient with aberrant erythrocyte pyruvate kinase, PK Nagasaki.

  1977cited by this paper
• Regulation of human erythrocyte hexokinase. The influence of glycolytic intermediates and inorganic phosphate.

  1977cited by this paper
• Interrelationships and functions of the pyruvate kinase isozymes and their variant forms: a review.

  1977cited by this paper
• Effects of Sulphydryl Compounds on Abnormal Red Cell Pyruvate Kinase

  1976cited by this paper
• Dual divalent cation requirement for activation of pyruvate kinase; essential roles of both enzyme- and nucleotide-bound metal ions.

  1976cited by this paper
• Normalisation of red blood cell pyruvate kinase in pyruvate kinase deficiency by riboflavin treatment.

  1975cited by this paper
• Pyruvate kinase deficiency

  1974cited by this paper
• 11 Pyruvate Kinase

  1973cited by this paper
• Multimolecular forms of pyruvate kinase from rat and other mammalian tissues. I. Electrophoretic studies.

  1972cited by this paper

• Hereditary hemolytic anemias

  2025cites this paper
• Current Status of Molecular Diagnosis of Hereditary Hemolytic Anemia in Korea

  2024cites this paper
• Clinical and Demographic Characteristics of Pyruvate Kinase Deficiency Patients: A Comprehensive Case Series Analysis

  2024cites this paper
• Case report: A rare case of pyruvate kinase deficiency and Crigler-Najjar syndrome type II with a novel pathogenic variant of PKLR and UGT1A1 mutation

  2023cites this paper
• Hématologie et populations

  2023cites this paper
• Novel PKLR missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred—PK deficiency masquerading as congenital dyserythropoietic anemia

  2022cites this paper
• A novel homozygous missense variant p.D339N in the PKLR gene correlates with pyruvate kinase deficiency in a Pakistani family: a case report

  2022cites this paper
• Korean clinical practice guidelines for the diagnosis of hereditary hemolytic anemia

  2022cites this paper
• Study of RBCs Pyruvate Kinase Deficiency in Neonatal Pathological Indirect Hyperbilirubinemia

  2022cites this paper
• Pyruvate kinase deficiency mimicking congenital dyserythropoietic anemia type I.

  2022cites this paper
• FLI1 accelerates leukemogenesis through transcriptional regulation of pyruvate kinase-L/R and other glycolytic genes

  2022cites this paper
• Genetic Diagnosis of Pyruvate Kinase Deficiency in Undiagnosed Iranian Patients with Severe Hemolytic Anemia, using Whole Exome Sequencing

  2022cites this paper
• Diagnosis, monitoring, and management of pyruvate kinase deficiency in children

  2021cites this paper
• Pyruvatkinasemangel der Erythrozyten in Deutschland

  2021cites this paper
• Consensus document for the diagnosis and treatment of pyruvate kinase deficiency.

  2021cites this paper
• Consensus document for the diagnosis and treatment of pyruvate kinase deficiency

  2021cites this paper
• Preclinical studies of efficacy thresholds and tolerability of a clinically ready lentiviral vector for pyruvate kinase deficiency treatment

  2021cites this paper
• Pyruvat kinase deficiency and nonspherocytic hemolytic anemia

  2020cites this paper
• Molecular heterogeneity of pyruvate kinase deficiency

  2020cites this paper
• Дефицит пируваткиназы и несфероцитарная гемолитическая анемия

  2020influential citation
• Molecular heterogeneity of pyruvate kinase deficiency.

  2020cites this paper
• Phosphate Derivatives of 3-Carboxyacylbetulin: SynThesis, In Vitro Anti-HIV and Molecular Docking Study

  2020cites this paper
• Epidemiological Study of Hereditary Hemolytic Anemia in the Korean Pediatric Population during 1997–2016: a Nationwide Retrospective Cohort Study

  2020cites this paper
• Pyruvate kinase deficiency: epidemiology, molecular analyses and modern diagnostic approaches (literature review)

  2020cites this paper
• Genotype‐phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency

  2020cites this paper
• Genetic variation influencing hemoglobin levels and risk for anemia across populations

  2019cites this paper
• Pyruvate Kinase Deficiency and Developments In its Treatment

  2019cites this paper
• Pyruvate kinase deficiency and its gene mutations in newborns with jaundice in East Azerbaijan province year 2014

  2019cites this paper
• Anemia in the Young and Old

  2019cites this paper
• A New Variant of PKLR Gene Associated With Mild Hemolysis may be Responsible for the Misdiagnosis in Pyruvate Kinase Deficiency.

  2019cites this paper
• Hemolytic Anemia

  2019cites this paper
• Pyruvatkinase, in Erythrozyten

  2019cites this paper
• Genetic variation of kinases and activation of nucleotide analog reverse transcriptase inhibitor tenofovir.

  2019cites this paper
• How we manage patients with pyruvate kinase deficiency

  2019cites this paper
• Safety and Efficacy of Mitapivat in Pyruvate Kinase Deficiency.

  2019cites this paper
• Anémies hémolytiques dues à des déficits en enzymes érythrocytaires autres que la G6PD

  2019cites this paper
• Novel PLKR mutations in four families with pyruvate kinase deficiency

  2019cites this paper
• Anemia at the Extremes of Life: Congenital Hemolytic Anemia

  2018cites this paper
• Regulation studies on human pyruvate kinases

  2018cites this paper
• Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study.

  2018cites this paper
• Successful Liver Transplants for Liver Failure Associated With Pyruvate Kinase Deficiency

  2018cites this paper
• Host Genetic Predisposition to Malaria

  2018cites this paper
• Squeezing for Life – Properties of Red Blood Cell Deformability

  2018cites this paper
• Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency

  2018cites this paper
• Appraisal of patient-reported outcome measures in analogous diseases and recommendations for use in phase II and III clinical trials of pyruvate kinase deficiency

  2018cites this paper
• [Identification and characterization of PKLR gene mutation in two patients with erythrocyte pyruvate kinase deficiency].

  2017cites this paper
• Novel mutations associated with pyruvate kinase deficiency in Brazil

  2017cites this paper
• Congenital Hemolytic Anemia.

  2017cites this paper
• Anemia in Children

  2017cites this paper
• AG-348 enhances pyruvate kinase activity in red blood cells from patients with pyruvate kinase deficiency.

  2017cites this paper
• 二例丙酮酸激酶缺乏症PKLR基因突变确证

  2017cites this paper
• Hemolytic Disorders of the Newborn, Current Methods of Diagnosis and Treatment: A Review Study

  2016cites this paper
• Hemolytic anemia with null PKLR mutations identified using whole exome sequencing and cured by hematopoietic stem cell transplantation combined with splenectomy

  2016cites this paper
• Phenotypic and molecular genetic analysis of Pyruvate Kinase deficiency in a Tunisian family

  2016cites this paper
• Erythrocyte pyruvate kinase deficiency: 2015 status report

  2015cites this paper
• HEMATOLOGY FOR THE UNDERGRADUATES

  2015cites this paper
• Anemia in the Neonate: The Differential Diagnosis and Treatment.

  2015cites this paper
• Modulation of Malaria Phenotypes by Pyruvate Kinase (PKLR) Variants in a Thai Population

  2015cites this paper
• Co‐inheritance of G6PD and PK deficiencies in a neonate carrying a Novel UGT1A1 genotype associated to Crigler–Najjar type II syndrome

  2015cites this paper
• Pyruvate Kinase Deficiency along with Detection of Plasminogen Activator Inhibitor (PAI-1) 4G/4G Homozygous Genotype in Pregnancy

  2015cites this paper
• Cholestasis and Hepatic Failure in a Neonate: A Case Report of Severe Pyruvate Kinase Deficiency

  2015cites this paper
• Molecular Analyses of Pyruvate Kinase Deficient Turkish Patients from a Single Center

  2015cites this paper
• FREQUENCY OF PYRUVATE KINASE (PK) DEFICIENCY IN NEONATES WITH HAEMOLYTIC ANAEMIA

  2015cites this paper
• The return of metabolism: biochemistry and physiology of the pentose phosphate pathway

  2014cites this paper
• Disorders of red cells and platelets

  2014cites this paper
• A Novel and a Previously Described Compound Heterozygous PKLR Gene Mutations Causing Pyruvate Kinase Deficiency in a Chinese Child

  2014cites this paper
• Dyserythropoiesis in a child with pyruvate kinase deficiency and coexistent unilateral multicystic dysplastic kidney

  2014cites this paper
• Infrared spectroscopic studies : from small molecules to large

  2014cites this paper
• "CODE PK", vers un registre national des patients déficitaires en pyruvate kinase intraérythrocytaire. À propos des 60 premiers patients inclus

  2013influential citation
• Molecular and clinical heterogeneity in pyruvate kinase deficiency in India.

  2013cites this paper
• Chapter 77 – Erythrocyte Disorders in Infancy

  2012cites this paper
• In silico-screening approaches for lead generation: identification of novel allosteric modulators of human-erythrocyte pyruvate kinase.

  2012cites this paper
• Allostery

  2012cites this paper
• CHAPTER 8 – Erythroenzyme disorders

  2011cites this paper
• Erythrocyte pyruvate kinase deficiency in an old‐order Amish cohort: Longitudinal risk and disease management

  2011cites this paper
• Managing the difficult case of fetal anemia

  2011cites this paper
• GLUCOSE-6-PHOSPHATE DEHYDROGENASE AND RED CELL PYRUVATE KINASE DEFICIENCY IN NEONATAL JAUNDICE CASES IN EGYPT

  2010cites this paper
• Studies on the effect of the lowered activity of the erythrocytic pyridoxal kinase on Plasmodium falciparum blood stages

  2010cites this paper
• Mapping of Char10, a novel malaria susceptibility locus on mouse chromosome 9

  2010cites this paper
• Red cell pyruvate kinase deficiency in Southern Sardinia.

  2010cites this paper
• Spectrum of novel mutations in the human PKLR gene in pyruvate kinase‐deficient Indian patients with heterogeneous clinical phenotypes

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

  2009influential citation
• Prevalence of Pyruvate Kinase Deficiency among the Newborns (Shiraz-Iran)

  2009cites this paper
• Using in silico models to simulate dual perturbation experiments: procedure development and interpretation of outcomes

  2009cites this paper
• The changing face of haemolytic disease of the newborn.

  2008cites this paper
• Pyruvate kinase deficiency and malaria.

  2008cites this paper
• Relative red blood cell enzyme levels as a clue to the diagnosis of pyruvate kinase deficiency

  2008cites this paper
• Prevalence of pyruvate kinase deficiency among the south Iranian population: quantitative assay and molecular analysis.

  2008cites this paper
• Intravascular hemolysis following low dose daily rifampin

  2008cites this paper
• Disorder of Red Blood Cells: Anemias

  2008cites this paper
• Prenatal diagnosis for a novel homozygous mutation in PKLR gene in an Indian family

  2007cites this paper
• Maternal Death Related to Misoprostol Overdose

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

  2007cites this paper
• Haemolytic disease of the newborn

  2007cites this paper
• Pyruvate Kinase Deficiency Complicating Pregnancy

  2007cites this paper
• Disorders of Red Cell Metabolism

  2007cites this paper
• Pyruvate kinase deficiency associated with severe liver dysfunction in the newborn

  2007influential citation
• In silico analysis of SNPs and other high-throughput data.

  2007cites this paper
• Identification of Novel Allosteric Regulators of Human‐Erythrocyte Pyruvate Kinase

  2007cites this paper
• Pyruvate kinase deficiency.

  2007cites this paper