Scholarly Resources

Disclaimer: Thrive with Pyruvate Kinase Deficiency Organization did not produce any of the information listed below. Please contact the supporting authors, company, or source for questions and comments.

The First Published PKD Article

An important part of the Pyruvate Kinase Deficiency history includes the first scholarly work about our condition that was published 60 years ago. It discusses the study of seven patients that proves PKD is genetic through recessive genes among other important findings.

Pyruvate Kinase (PK) Deficiency Hereditary Nonspherocytic Hemolytic Anemia (1962)

General Articles

Health-Related Quality of Life and Fatigue in Children and Adults with Pyruvate Kinase Deficiency (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)

Protecting vulnerable patients with inherited anaemias from unnecessary death during the COVID‐19 pandemic (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)

The burden of disease in pyruvate kinase deficiency: Patients’ perception of the impact on health-related quality of life (2018)

Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study (2018)

Genetic and Rare Diseases Information Center webpage on Pyruvate kinase deficiency (2016)

Erythrocyte pyruvate kinase deficiency in an old-order Amish cohort:Longitudinal risk and disease management (2011)

Diagnosis & Genetics

Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency (2020)

Molecular heterogeneity of pyruvate kinase deficiency (2020)

Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency (2019)

A New Variant of PKLR Gene Associated With Mild Hemolysis may be Responsible for the Misdiagnosis in Pyruvate Kinase Deficiency (2019)

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)

A pyruvate kinase deficiency child with novel PK-LR gene mutations was successfully cured by matched unrelated donor peripheral blood stem cell transplantation (2021)

Epidemiological Study of Hereditary Hemolytic Anemia in the Korean Pediatric Population during 1997–2016: a Nationwide Retrospective Cohort Study (2020)

How we manage patients with pyruvate kinase deficiency (2019)

Iron Overload & Hemochromatosis

Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study (2019)

Treatment Research

Clinically relevant gene editing in hematopoietic stem cells for the treatment of pyruvate kinase deficiency (2021)

A systematic review of quality of life in sickle cell disease and thalassemia after stem cell transplant or gene therapy (2021)

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)

Appraisal of patient-reported outcome measures in analogous diseases and recommendations for use in phase II and III clinical trials of pyruvate kinase deficiency (2019)

Safety and Efficacy of Mitapivat in Pyruvate Kinase Deficiency (2019)

Phase 1 Single- and Multiple-Ascending-Dose Randomized Studies of the Safety, Pharmacokinetics, and Pharmacodynamics of AG-348, a First-in-Class Allosteric Activator of Pyruvate Kinase R, in Healthy Volunteers (2018)

Screening of hereditary spherocytosis and pyruvate kinase deficiency by automated blood count using erythrocytic and reticulocytic parameters (2018)

Worldwide study of hematopoietic allogeneic stem cell transplantation in pyruvate kinase deficiency (2018)

AG-348 enhances pyruvate kinase activity in red blood cells from patients with pyruvate kinase deficiency (2017)

Safe and Efficient Gene Therapy for Pyruvate
Kinase Deficiency

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