Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study.

No abstract is available for this paper.

• Publication year

  2018

• Venue

  Blood

• Publication date

  2018-05-17

• Fields of study

  Medicine

• Identifiers
  DOI 10.1182/blood-2017-10-810796PMID 29549173
• 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.

• Long-term complications of splenectomy in adult immune thrombocytopenia

  2016cited by this paper
• Cholestasis and Hepatic Failure in a Neonate: A Case Report of Severe Pyruvate Kinase Deficiency

  2015cited by this paper
• Erythrocyte pyruvate kinase deficiency: 2015 status report

  2015cited by this paper
• Clinical heterogeneity and predictors of outcome in primary autoimmune hemolytic anemia: a GIMEMA study of 308 patients.

  2014cited by this paper
• Erythrocyte pyruvate kinase deficiency in an old‐order Amish cohort: Longitudinal risk and disease management

  2011cited by this paper
• Risk of venous thromboembolism in splenectomized patients compared with the general population and appendectomized patients: a 10‐year nationwide cohort study

  2010cited by this paper
• Bone Disease in Thalassemia: A Frequent and Still Unresolved Problem

  2008cited by this paper
• Pyruvate kinase deficiency associated with severe liver dysfunction in the newborn

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

  2007cited by this paper
• Pyruvate kinase deficiency in France: a 3‐year study reveals 27 new mutations

  2006influential reference
• Thromboembolic complications after splenectomy for hematologic diseases

  2004cited by this paper
• Red cell pyruvate kinase deficiency: from genetics to clinical manifestations.

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

  2000cited by this paper
• Prevalence of pyruvate kinase deficiency in northern European population in the north of England. Northern Region Haematologists Group.

  2000cited by this paper
• Prevalence of pyruvate kinase deficiency in a northern European population in the north of England

  2000cited by this paper
• Molecular analysis of 29 pyruvate kinase-deficient patients from central Europe with hereditary hemolytic anemia.

  1997cited by this paper
• THROMBO‐EMBOLIC DISEASE AFTER SPLENECTOMY FOR HEREDITARY STOMATOCYTOSIS

  1996cited by this paper
• The role of the left-shifted or right-shifted oxygen-hemoglobin equilibrium curve.

  1971cited by this paper
• Selective reticulocyte destruction in erythrocyte pyruvate kinase deficiency.

  1971cited by this paper
• Oxygen-Hemoglobulin Dissociation Curves: Effect of Inherited Enzyme Defects of the Red Cell

  1969influential reference
• Life-span and organ sequestration of the red cells in pyruvate kinase deficiency.

  1968cited by this paper
• Pyruvate kinase (PK) deficiency hereditary nonspherocytic hemolytic anemia.

  1962cited by this paper

• Pyruvate kinase deficiency modifies sickle hemoglobin carrier and sickle cell disease phenotypes in mice.

  2026cites this paper
• Anémies hémolytiques héréditaires (hémoglobinopathies exclues)

  2026cites this paper
• Association between the systemic immune-inflammation index and anemia among US children: national health and nutrition examination survey (NHANES), 2001–2018

  2025cites this paper
• Pyruvate Kinase Deficiency: Markedly Decreased Reticulocyte PK Activity and Limited Specificity of the PK/HK Ratio

  2025cites this paper
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  2025cites this paper
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  2025cites this paper
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  2025cites this paper
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  2025cites this paper
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  2025cites 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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  2024cites this paper
• Diagnosis and management of pyruvate kinase deficiency: international expert guidelines.

  2024cites this paper
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  2024influential citation
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  2024cites this paper
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  2024cites this paper
• Pyruvate kinase deficiency: A case series of Congenital Non-Spherocytic Hemolytic Anemia

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

  2024influential citation
• Comorbidities and complications in adult and paediatric patients with pyruvate kinase deficiency: Analysis from the Peak Registry

  2024cites 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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  2023cites this paper
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  2023cites this paper
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  2023cites this paper
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  2023cites this paper
• Pyruvate kinase activators for treatment of pyruvate kinase deficiency.

  2023cites this paper
• Mitapivat: A Review in Pyruvate Kinase Deficiency in Adults

  2023cites this paper
• Clinical and biochemical footprints of inherited metabolic disease. XVI. Hematological abnormalities

  2023cites this paper
• Terapia prenatal: anemia fetal y transfusión in utero

  2023cites this paper
• Psychometric validation of the Pyruvate Kinase Deficiency Diary and Pyruvate Kinase Deficiency Impact Assessment in adults in the phase 3 ACTIVATE trial

  2023influential citation
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  2023cites this paper
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  2023cites this paper
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  2023cites this paper
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  2023influential citation
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  2023cites this paper
• Treating pyruvate kinase deficiency with Mitapivat: a short communication

  2023cites this paper
• Biomarker Pursuit: Keeping Current With Novel Biomarkers in Hematology/Oncology

  2023cites this paper
• Specific correction of pyruvate kinase deficiency-causing point mutations by CRISPR/Cas9 and single-stranded oligodeoxynucleotides

  2023influential citation
• Hypercoagulability evaluation in congenital red blood cell disorders using thrombin generation assay.

  2023cites this paper
• Updates and advances in pyruvate kinase deficiency.

  2023cites this paper
• Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population

  2023cites this paper
• Erythrocyte pyruvate kinase activation in red cell disorders

  2023cites this paper
• Early‐onset reduced bone mineral density in patients with pyruvate kinase deficiency

  2023cites this paper
• Thérapie prénatale : anémie fœtale et transfusion in utero

  2023cites this paper
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  2022cites this paper
• An evaluation of mitapivat for the treatment of hemolytic anemia in adults with pyruvate kinase deficiency

  2022cites this paper
• Inherited hemolytic anemias in children

  2022cites this paper
• Whole‐exome sequencing uncovered genetic diagnosis of severe inherited haemolytic anaemia: Correlation with clinical phenotypes

  2022cites this paper
• Pyruvate kinase deficiency: clinical expression and new therapies.

  2022cites this paper
• Iron overload disorders

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

  2022cites this paper
• Molecular glues: enhanced protein-protein interactions and cell proteome editing

  2022cites this paper
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  2022cites this paper
• Proton pump inhibition for secondary hemochromatosis in hereditary anemia: a phase III placebo‐controlled randomized cross‐over clinical trial

  2022cites this paper
• Novel Compound Heterozygous PKLR Mutation Induced Pyruvate Kinase Deficiency With Persistent Pulmonary Hypertension in a Neonate: A Case Report

  2022cites this paper
• Mitapivat versus Placebo for Pyruvate Kinase Deficiency.

  2022cites this paper
• Concomitant Hereditary Spherocytosis and Pyruvate Kinase Deficiency in a Spanish Family with Chronic Hemolytic Anemia: Contribution of Laser Ektacytometry to Clinical Diagnosis

  2022cites this paper
• Mitapivat in adult patients with pyruvate kinase deficiency receiving regular transfusions (ACTIVATE-T): a multicentre, open-label, single-arm, phase 3 trial.

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

  2022influential citation
• Changing trends of splenectomy in hereditary spherocytosis: The experience of a reference Centre in the last 40 years

  2022cites this paper
• Pyruvatkinasemangel der Erythrozyten

  2022cites this paper
• Anemia in the pediatric patient.

  2022cites this paper
• Congenital Disorders of Red Blood Cells.

  2022cites this paper
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  2022cites this paper
• Who should be eligible for gene therapy clinical trials in red blood cell pyruvate kinase deficiency (PKD)?: Toward an expanded definition of severe PKD

  2022cites this paper
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  2022influential citation
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  2021cites this paper
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  2021cites this paper
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  2021cites this paper
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  2021cites this paper
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  2021cites this paper
• Circulating extracellular vesicles and cytokines in congenital and acquired hemolytic anemias

  2021cites this paper
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  2021cites this paper
• FT-4202, an oral PKR activator, has potent antisickling effects and improves RBC survival and Hb levels in SCA mice.

  2021cites this paper
• Pyruvate kinase deficiency in children

  2021cites this paper
• Molecular genetic testing enabled the diagnosis of otherwise undiagnosable cases of pyruvate kinase deficiency

  2021cites this paper
• Clinically relevant gene editing in hematopoietic stem cells for the treatment of pyruvate kinase deficiency

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• Health-related quality of life and fatigue in children and adults with pyruvate kinase deficiency

  2021cites this paper
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  2021cites this paper
• The EHA Research Roadmap: Anemias

  2021cites this paper
• Diagnosis, monitoring, and management of pyruvate kinase deficiency in children

  2021cites this paper
• Severe Presentation of Congenital Hemolytic Anemias in the Neonatal Age: Diagnostic and Therapeutic Issues

  2021cites this paper
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  2021cites this paper
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• Hematology of Childhood and Adolescence

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  2021cites this paper
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  2021cites this paper
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  2020cites this paper
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  2020cites this paper
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  2020cites this paper
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  2020cites this paper
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  2020influential citation
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