ReviewHaematologica2020
Molecular heterogeneity of pyruvate kinase deficiency.
Review in Haematologica, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
22 citing papers in PubMed, 47 citations in OpenAlex.
- Relative Bioavailability Studies With Mitapivat: Formulation and Food Effect Assessments in Healthy Subjects.Clinical pharmacology in drug development · 2024Trial
- Two Novel PKLR Variants in Pyruvate Kinase Deficiency: Insights From Clinical, Molecular and Functional Analysis.International journal of laboratory hematology · 2026Article
- Article
- Expanding the PKLR mutation spectrum: discovery of two novel variants in two pediatric cases of pyruvate kinase deficiency.Annals of hematology · 2026Article
- The influence of early intravenous immunoglobulin administration on the prognosis of severe hemolytic disorders in neonates.BMC pediatrics · 2026Article
- Assessing the Impact of Intravascular Hemolysis on Erythropoiesis in Sickle Cell Disease.Methods in molecular biology (Clifton, N.J.) · 2026Article
- From Mutation to Manifestation: Evaluation of aAnimals : an open access journal from MDPI · 2025Article
- Pyruvate kinase deficiency andHeliyon · 2024Article
- PYK-SubstitutionOME: an integrated database containing allosteric coupling, ligand affinity and mutational, structural, pathological, bioinformatic and computational information about pyruvate kinase isozymes.Database : the journal of biological databases and curation · 2023Article
- Evaluation of the main regulators of systemic iron homeostasis in pyruvate kinase deficiency.Scientific reports · 2023Article
- Specific correction of pyruvate kinase deficiency-causing point mutations by CRISPR/Cas9 and single-stranded oligodeoxynucleotides.Frontiers in genome editing · 2023Article
- Genetic Diagnosis of Pyruvate Kinase Deficiency in Undiagnosed Iranian Patients with Severe Hemolytic Anemia, using Whole Exome Sequencing.Archives of Iranian medicine · 2022Article
- Genetic variants of PKLR are associated with acute pain in sickle cell disease.Blood advances · 2022Article
- The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper.HemaSphere · 2022Article
- Article
- A novel homozygous missense variant p.D339N in the PKLR gene correlates with pyruvate kinase deficiency in a Pakistani family: a case report.Journal of medical case reports · 2022Article
- NovelClinical case reports · 2022Article
- Novel Compound HeterozygousFrontiers in cardiovascular medicine · 2022Article
- Case report: Compound heterozygosity inFrontiers in pediatrics · 2022Article
- Rare Anemias: Are Their Names Just Smoke and Mirrors?Frontiers in physiology · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Red cell pyruvate kinase (PK) deficiency is the most common glycolytic defect associated with congenital non-spherocytic hemolytic anemia. The disease, transmitted as an autosomal recessive trait, is caused by mutations in the PKLR gene and is characterized by molecular and clinical heterogeneity; anemia ranges from mild or fully compensated hemolysis to life-threatening forms necessitating neonatal exchange transfusions and/or subsequent regular transfusion support; complications include gallstones, pulmonary hypertension, extramedullary hematopoiesis and iron overload. Since identification of the first pathogenic variants responsible for PK deficiency in 1991, more than 300 different variants have been reported, and the study of molecular mechanisms and the existence of genotype-phenotype correlations have been investigated in-depth. In recent years, during which progress in genetic analysis, next-generation sequencing technologies and personalized medicine have opened up important landscapes for diagnosis and study of molecular mechanisms of congenital hemolytic anemias, genotyping has become a prerequisite for accessing new treatments and for evaluating disease state and progression. This review examines the extensive molecular heterogeneity of PK deficiency, focusing on the diagnostic impact of genotypes and new acquisitions on pathogenic non-canonical variants. The recent progress and the weakness in understanding the genotype-phenotype correlation, and its practical usefulness in light of new therapeutic opportunities for PK deficiency are also discussed.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.