PK DEFICIENCY RESOURCES
See PK deficiency through your patients' eyes
- Agios, in consultation with PK deficiency patients, has created the Pyruvate Kinase Deficiency Patient Empathy Explorer, a simulation app that allows you to experience symptoms from your patients’ perspective.
Publications on PK Deficiency
PK Deficiency-General
- Al-Samkari H, van Beers EJ, Kuo KHM, et al. The variable manifestations of disease in pyruvate kinase deficiency and their management [published online ahead of print, March 12, 2020]. Haematologica. 2020; 2019.240846. doi:10.3324/haematol.2019.240846
- Bianchi P, Fermo E, Lezon-Geyda K, et al. Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency. Am J Hematol. 2020;95(5):472-482.
- Bianchi P, Fermo E, Glader B, et al. Addressing the diagnostic gaps in pyruvate kinase deficiency: consensus recommendations on the diagnosis of pyruvate kinase deficiency. Am J Hematol. 2019;94(1):149-161.
- Grace RF, Bianchi P, van Beers EJ, et al. Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study. Blood. 2018;131(20):2183-2192.
- Grace RF, Layton DM, Barcellini W. How we manage patients with pyruvate kinase deficiency. Br J Haematol. 184(5):721-734.
Transfusion Therapy and Iron Overload
- van Beers EJ, van Straaten S, Morton DH, et al. Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study. Haematologica. 2019;104(2):e51-e53.