Associated Papers
Pyruvate Kinase Deficiency: An Underdiagnosed Cause of Severe Hemolytic Anemia in Iranian Population: Insights From Whole Exome Sequencing of Four Families and Screening of a Population-Specific Database.
Rafat M et al.
International Journal of Laboratory Hematology, 2026
Efficacy and Safety of Mitapivat in Pyruvate Kinase Deficiency: A Systematic Review and Meta-analysis of Clinical Trials.
Mohammed HE et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2025
How We Treat Hemolytic Anemia Due to Pyruvate Kinase Deficiency.
Tama-Shekan S et al.
Hematology Reports, 2024
Comorbidities and complications in adult and paediatric patients with pyruvate kinase deficiency: Analysis from the Peak Registry.
Glenthøj A et al.
British Journal of Haematology, 2024
Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population.
Dongerdiye R et al.
Annals of Hematology, 2023
Updates and advances in pyruvate kinase deficiency.
Luke N et al.
Trends in Molecular Medicine, 2023
Specific correction of pyruvate kinase deficiency-causing point mutations by CRISPR/Cas9 and single-stranded oligodeoxynucleotides.
Fañanas-Baquero S et al.
Frontiers in Genome Editing, 2023
An evaluation of mitapivat for the treatment of hemolytic anemia in adults with pyruvate kinase deficiency.
Song AB et al.
Expert Review of Hematology, 2022
Mitapivat versus Placebo for Pyruvate Kinase Deficiency.
Al-Samkari H et al.
The New England Journal of Medicine, 2022
Fetal Pyruvate Kinase Deficiency Identified Incidentally in a Chinese Family at Risk for α-Thalassemia.
Han J et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2022
Pyruvate Kinase Deficiency: Current Challenges and Future Prospects.
Fattizzo B et al.
Journal of Blood Medicine, 2022
[Consensus document for the diagnosis and treatment of pyruvate kinase deficiency].
Morado M et al.
Medicina Clinica, 2021
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
Pyruvate kinase deficiency in children.
Chonat S et al.
Pediatric Blood & Cancer, 2021
The pyruvate kinase (PK) to hexokinase enzyme activity ratio and erythrocyte PK protein level in the diagnosis and phenotype of PK deficiency.
Al-Samkari H et al.
British Journal of Haematology, 2021
Molecular heterogeneity of pyruvate kinase deficiency.
Bianchi P et al.
Haematologica, 2020
Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.
Bianchi P et al.
American Journal of Hematology, 2020
Study of pathophysiology and molecular characterization of congenital anemia in India using targeted next-generation sequencing approach.
Kedar PS et al.
International Journal of Hematology, 2019
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
How we manage patients with pyruvate kinase deficiency.
Grace RF et al.
British Journal of Haematology, 2019
Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency.
Bianchi P et al.
American Journal of Hematology, 2019
Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study.
Grace RF et al.
Blood, 2018
AG-348 enhances pyruvate kinase activity in red blood cells from patients with pyruvate kinase deficiency.
Kung C et al.
Blood, 2017
Molecular and clinical heterogeneity in pyruvate kinase deficiency in India.
Warang P et al.
Blood Cells, Molecules & Diseases, 2013
Assessment of the red cell proteome of young patients with unexplained hemolytic anemia by two-dimensional differential in-gel electrophoresis (DIGE).
von Löhneysen K et al.
Plos One, 2012
Spectrum of novel mutations in the human PKLR gene in pyruvate kinase-deficient Indian patients with heterogeneous clinical phenotypes.
Kedar P et al.
Clinical Genetics, 2009
Pyruvate kinase (PK) deficiency in newborns: the pitfalls of diagnosis.
Pissard S et al.
The Journal of Pediatrics, 2007
Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations.
Pissard S et al.
British Journal of Haematology, 2006
Mining for allosteric information: natural mutations and positional sequence conservation in pyruvate kinase.
Pendergrass DC et al.
Iubmb Life, 2006
Ex vivo analysis of aberrant splicing induced by two donor site mutations in PKLR of a patient with severe pyruvate kinase deficiency.
Wijk R et al.
British Journal of Haematology, 2004
Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia.
Valentini G et al.
The Journal of Biological Chemistry, 2002
Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency.
Indo Y et al.
Human Mutation, 2001
[Identification of 5 variants of the hemoglobin beta chain using DNA analysis (amplification, sequencing and restriction enzymes)].
Martí E et al.
Sangre, 1997
[A case of congenital non-spherocytic hemolytic anemia caused by enzyme deficiency in pyruvate kinase].
Clavier M et al.
Journal De Genetique Humaine, 1986
[Splenectomized pyruvate kinase deficiency hemolytic anemia with positive Coombs' test: report of a case with family study (author's transl)].
Kojima S et al.
[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 1979
[Metabolic studies in a family with 3 cases of congenital non-spherocytic hemolytic anemia with a pyruvate kinase deficiency].
Busch D
Folia Haematologica; Internationales Magazin Fur Blutforschung, 1964
Mitapivat therapy in a patient with nonsense homozygous mutation of the Pyruvate Kinase L/R gene: a case report.
Ceglie S et al.
Blood Transfusion = Trasfusione Del Sangue, 0