Management of pyruvate kinase deficiency in children and adults.
Grace RF, Barcellini W.
Blood. 2020 Sep 10;136(11):1241-1249. doi: 10.1182/blood.2019000945.
Pyruvate Kinase Deficiency: Current Challenges and Future Prospects.
Fattizzo B, Cavallaro F, Marcello APML, Vercellati C, Barcellini W.
J Blood Med. 2022 Sep 1;13:461-471. doi: 10.2147/JBM.S353907. eCollection 2022.
Diagnosis and management of pyruvate kinase deficiency: international expert guidelines.
Al-Samkari H, Shehata N, Lang-Robertson K, Bianchi P, Glenthøj A, Sheth S, Neufeld EJ, Rees DC, Chonat S, Kuo KHM, Rothman JA, Barcellini W, van Beers EJ, Pospíšilová D, Shah AJ, van Wijk R, Glader B, Mañú Pereira MDM, Andres O, Kalfa TA, Eber SW, Gallagher PG, Kwiatkowski JL, Galacteros F, Lander C, Watson A, Elbard R, Peereboom D, Grace RF.
Lancet Haematol. 2024 Mar;11(3):e228-e239. doi: 10.1016/S2352-3026(23)00377-0. Epub 2024 Feb 5.
Pyruvate Kinase Deficiency.
Enegela OA, Anjum F.
2023 Apr 27. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–.
Pyruvate kinase deficiency.
Zanella A, Bianchi P, Fermo E.
Haematologica. 2007 Jun;92(6):721-3. doi: 10.3324/haematol.11469.
Updates and advances in pyruvate kinase deficiency.
Luke N, Hillier K, Al-Samkari H, Grace RF.
Trends Mol Med. 2023 May;29(5):406-418. doi: 10.1016/j.molmed.2023.02.005. Epub 2023 Mar 17.
Prevalence of pyruvate kinase deficiency: A systematic literature review.
Secrest MH, Storm M, Carrington C, Casso D, Gilroy K, Pladson L, Boscoe AN.
Eur J Haematol. 2020 Aug;105(2):173-184. doi: 10.1111/ejh.13424. Epub 2020 Jun 23.
Mitapivat: A Review in Pyruvate Kinase Deficiency in Adults.
Zhuang-Yan A, Shirley M.
Drugs. 2023 Nov;83(17):1613-1620. doi: 10.1007/s40265-023-01961-x. Epub 2023 Nov 22.
Molecular heterogeneity of pyruvate kinase deficiency.
Bianchi P, Fermo E.
Haematologica. 2020 Sep 1;105(9):2218-2228. doi: 10.3324/haematol.2019.241141.
Pyruvate kinase deficiency in children.
Chonat S, Eber SW, Holzhauer S, Kollmar N, Morton DH, Glader B, Neufeld EJ, Yaish HM, Rothman JA, Sharma M, Ravindranath Y, Wang H, Breakey VR, Sheth S, Bradeen HA, Al-Sayegh H, London WB, Grace RF.
Pediatr Blood Cancer. 2021 Sep;68(9):e29148. doi: 10.1002/pbc.29148. Epub 2021 Jun 14.
