Note: Information on Thalassemia and Sickle Cell Anemia may be included because these diseases are similar hemolytic anemias.
The First Published PKD Article
An important part of the Pyruvate Kinase Deficiency history includes the first scholarly work that was published 60 years ago. It identifies PKD as a genetic, hemolytic anemia.
Pyruvate Kinase (PK) Deficiency Hereditary Nonspherocytic Hemolytic Anemia (1962)
General Articles
Diagnosis, monitoring, and management of pyruvate kinase deficiency in children (2022)
Comorbidities and complications in adults with pyruvate kinase deficiency (2021)
Health-Related Quality of Life and Fatigue in Children and Adults with Pyruvate Kinase Deficiency (2021)
Effects of Transfusions of stored blood in patients with transfusion-dependent thalassemia (2021)
Laboratory approach to investigation of anemia with a focus on pyruvate kinase deficiency (2020)
Management of pyruvate kinase deficiency in children and adults (2020)
Prevalence of pyruvate kinase deficiency: A systematic literature review (2020)
The variable manifestations of disease in pyruvate kinase deficiency and their management (2020)
Organ involvement occurs in all forms of hereditary haemolytic anaemia (2019)
Genetic and Rare Diseases Information Center webpage on Pyruvate kinase deficiency (2016)
Diagnosis & Genetics
Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency (2020)
Molecular heterogeneity of pyruvate kinase deficiency (2020)
Unraveling hereditary hemolytic anemia: Clinical sequelae and pathophysiology (2019)
Clinical spectrum of pyruvate kinase deficiency (2018)
Erythrocyte pyruvate kinase deficiency: 2015 status report (2015)
Caregiving & Pediatrics
Pyruvate kinase deficiency in children (2021)
How we manage patients with pyruvate kinase deficiency (2019)
Iron Overload
Evaluation of the Main Regulators of Systematic Iron Homeostasis in Pyruvate Kinase Deficiency (2021)
Treatment Research
H. Al Samkari, et al. Mitapivat versus Placebo for Pyruvate Kinase Deficiency. NEJM. (2022)
Towards manufactured red blood cells for the treatment of inherited anemia (2021)
Erythrocytapheresis as a novel treatment option for adult patients with pyruvate kinase deficiency (2020)
Safety and Efficacy of Mitapivat in Pyruvate Kinase Deficiency (2019)
Worldwide study of hematopoietic allogeneic stem cell transplantation in pyruvate kinase deficiency (2018)
Safe and Efficient Gene Therapy for Pyruvate
Kinase Deficiency (2016)
Topics Related to PKD
Generation and Export of Red Blood Cell ATP in Health and Disease (2021)
Are we missing anything?
If you have a great PKD resource to add to our collection, please contact us at twpkdnonprofit@gmail.com with the title and a public link!