New York Comprehensive Thalassemia Center
Found 4 results
Author Title Type [ Year(Asc)]
Filters: Keyword is Mutation  [Clear All Filters]
2021
Boscoe AN, Yan Y, Hedgeman E, van Beers EJ, Al-Samkari H, Barcellini W, Eber SW, Glader B, Yaish HM, Chonat S et al..  2021.  Comorbidities and complications in adults with pyruvate kinase deficiency.. Eur J Haematol. 106(4):484-492.
2019
van Beers EJ, van Straaten S, D Morton H, Barcellini W, Eber SW, Glader B, Yaish HM, Chonat S, Kwiatkowski JL, Rothman JA et al..  2019.  Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study.. Haematologica. 104(2):e51-e53.
Grace RF, Rose C, D Layton M, Galactéros F, Barcellini W, D Morton H, van Beers EJ, Yaish H, Ravindranath Y, Kuo KHM et al..  2019.  Safety and Efficacy of Mitapivat in Pyruvate Kinase Deficiency.. N Engl J Med. 381(10):933-944.
2018
Grace RF, Bianchi P, van Beers EJ, Eber SW, Glader B, Yaish HM, Despotovic JM, Rothman JA, Sharma M, McNaull MM et al..  2018.  Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study.. Blood. 131(20):2183-2192.