GuidelineAmerican journal of hematology2019
Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency.
Guideline in American journal of hematology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 1 of them a synthesis that pooled it.
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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
44 citing papers in PubMed, 1 synthesis or guideline pooled it, 88 citations in OpenAlex.
- Prevalence of pyruvate kinase deficiency: A systematic literature review.European journal of haematology · 2020Pooled it
- Psychometric validation of the Pyruvate Kinase Deficiency Diary and Pyruvate Kinase Deficiency Impact Assessment in adults in the phase 3 ACTIVATE trial.Journal of patient-reported outcomes · 2023Trial
- Differential Diagnosis of Anemia Using the Erythrocyte Filterability Method.International journal of molecular sciences · 2026Article
- Two Novel PKLR Variants in Pyruvate Kinase Deficiency: Insights From Clinical, Molecular and Functional Analysis.International journal of laboratory hematology · 2026Article
- [Clinical analysis of six patients with pyruvate kinase deficiency caused byZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Article
- European Reference Networks - a flagship activity of the EU in the field of rare and complex diseases: from 2017 to 2025.Orphanet journal of rare diseases · 2026Review
- The return of metabolism: biochemistry and physiology of glycolysis.Biological reviews of the Cambridge Philosophical Society · 2026Review
- From Mutation to Manifestation: Evaluation of aAnimals : an open access journal from MDPI · 2025Article
- Pyruvate Kinase Deficiency: Markedly Decreased Reticulocyte PK Activity and Limited Specificity of the PK/HK Ratio.International journal of molecular sciences · 2025Article
- Pyruvate Kinase Function Correlates With Red Blood Cell Properties and Clinical Manifestations in Sickle Cell Disease.American journal of hematology · 2025Article
- Overall Survival of Patients With Pyruvate Kinase Deficiency in the UK: A Real-World Study.EJHaem · 2025Article
- Hemolytic anemia due to pyruvate kinase deficiency coexistent with the alpha thalassemia trait and chronic myeloid leukemia.Hematology, transfusion and cell therapy · 2024Article
- How We Treat Hemolytic Anemia Due to Pyruvate Kinase Deficiency.Hematology reports · 2024Article
- Article
- Current Status of Molecular Diagnosis of Hereditary Hemolytic Anemia in Korea.Journal of Korean medical science · 2024Review
- Bone mineral density in adult patients with pyruvate kinase deficiency on long-term mitapivat treatment.Haematologica · 2024Article
- Pyruvate kinase activators for treatment of pyruvate kinase deficiency.Hematology. American Society of Hematology. Education Program · 2023Article
- Glucose-6-phosphate isomerase deficiency hemolysis.Quantitative imaging in medicine and surgery · 2023Article
- Clinical outcome and genotype analysis of four Chinese children with pyruvate kinase deficiency.Molecular genetics & genomic medicine · 2023Article
- Updates and advances in pyruvate kinase deficiency.Trends in molecular medicine · 2023Review
Corrections and comments
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Authors and funding
19 authors at 14 institutions in 8 countries.
Funding
Abstract
Pyruvate kinase deficiency (PKD) is the most common enzyme defect of glycolysis and an important cause of hereditary, nonspherocytic hemolytic anemia. The disease has a worldwide geographical distribution but there are no verified data regarding its frequency. Difficulties in the diagnostic workflow and interpretation of PK enzyme assay likely play a role. By the creation of a global PKD International Working Group in 2016, involving 24 experts from 20 Centers of Expertise we studied the current gaps in the diagnosis of PKD in order to establish diagnostic guidelines. By means of a detailed survey and subsequent discussions, multiple aspects of the diagnosis of PKD were evaluated and discussed by members of Expert Centers from Europe, USA, and Asia directly involved in diagnosis. Broad consensus was reached among the Centers on many clinical and technical aspects of the diagnosis of PKD. The results of this study are here presented as recommendations for the diagnosis of PKD and used to prepare a diagnostic algorithm. This information might be helpful for other Centers to deliver timely and appropriate diagnosis and to increase awareness in PKD.
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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.