Pyruvate kinase deficiency.
Zanella A, Bianchi P, Fermo E.
Haematologica. 2007 Jun;92(6):721-3. doi: 10.3324/haematol.11469.
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.
Comorbidities and complications in adults with pyruvate kinase deficiency.
Boscoe AN, Yan Y, Hedgeman E, van Beers EJ, Al-Samkari H, Barcellini W, Eber SW, Glader B, Yaish HM, Chonat S, Sharma M, Kuo KHM, Neufeld EJ, Wang H, Verhovsek M, Sheth S, Grace RF.
Eur J Haematol. 2021 Apr;106(4):484-492. doi: 10.1111/ejh.13572. Epub 2021 Jan 24.
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.
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.
Mitapivat versus Placebo for Pyruvate Kinase Deficiency.
Al-Samkari H, Galactéros F, Glenthøj A, Rothman JA, Andres O, Grace RF, Morado-Arias M, Layton DM, Onodera K, Verhovsek M, Barcellini W, Chonat S, Judge MP, Zagadailov E, Xu R, Hawkins P, Beynon V, Gheuens S, van Beers EJ; ACTIVATE Investigators.
N Engl J Med. 2022 Apr 14;386(15):1432-1442. doi: 10.1056/NEJMoa2116634.
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.
Miwa S.
Nihon Ketsueki Gakkai Zasshi. 1987 Dec;50(8):1445-52.
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.
