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Page 1
Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study.
van Beers EJ, van Straaten S, Morton DH, Barcellini W, Eber SW, Glader B, Yaish HM, Chonat S, Kwiatkowski JL, Rothman JA, Sharma M, Neufeld EJ, Sheth S, Despotovic JM, Kollmar N, Pospíšilová D, Knoll CM, Kuo K, Pastore YD, Thompson AA, Newburger PE, Ravindranath Y, Wang WC, Wlodarski MW, Wang H, Holzhauer S, Breakey VR, Verhovsek M, Kunz J, McNaull MA, Rose MJ, Bradeen HA, Addonizio K, Li A, Al-Sayegh H, London WB, Grace RF. van Beers EJ, et al. Haematologica. 2019 Feb;104(2):e51-e53. doi: 10.3324/haematol.2018.196295. Epub 2018 Sep 13. Haematologica. 2019. PMID: 30213831 Free PMC article. No abstract available.
Rethinking childhood ependymoma: a retrospective, multi-center analysis reveals poor long-term overall survival.
Marinoff AE, Ma C, Guo D, Snuderl M, Wright KD, Manley PE, Al-Sayegh H, Sinai CE, Ullrich NJ, Marcus K, Haas-Kogan D, Goumnerova L, London WB, Kieran MW, Chi SN, Fangusaro J, Bandopadhayay P. Marinoff AE, et al. J Neurooncol. 2017 Oct;135(1):201-211. doi: 10.1007/s11060-017-2568-8. Epub 2017 Jul 21. J Neurooncol. 2017. PMID: 28733870 Free PMC article.
Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study.
Grace RF, Bianchi P, van Beers EJ, Eber SW, Glader B, Yaish HM, Despotovic JM, Rothman JA, Sharma M, McNaull MM, Fermo E, Lezon-Geyda K, Morton DH, Neufeld EJ, Chonat S, Kollmar N, Knoll CM, Kuo K, Kwiatkowski JL, Pospíšilová D, Pastore YD, Thompson AA, Newburger PE, Ravindranath Y, Wang WC, Wlodarski MW, Wang H, Holzhauer S, Breakey VR, Kunz J, Sheth S, Rose MJ, Bradeen HA, Neu N, Guo D, Al-Sayegh H, London WB, Gallagher PG, Zanella A, Barcellini W. Grace RF, et al. Blood. 2018 May 17;131(20):2183-2192. doi: 10.1182/blood-2017-10-810796. Epub 2018 Mar 16. Blood. 2018. PMID: 29549173 Free article.
Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.
Bianchi P, Fermo E, Lezon-Geyda K, van Beers EJ, Morton HD, Barcellini W, Glader B, Chonat S, Ravindranath Y, Newburger PE, Kollmar N, Despotovic JM, Verhovsek M, Sharma M, Kwiatkowski JL, Kuo KHM, Wlodarski MW, Yaish HM, Holzhauer S, Wang H, Kunz J, Addonizio K, Al-Sayegh H, London WB, Andres O, van Wijk R, Gallagher PG, Grace RFF. Bianchi P, et al. Am J Hematol. 2020 May;95(5):472-482. doi: 10.1002/ajh.25753. Epub 2020 Mar 6. Am J Hematol. 2020. PMID: 32043619 Free PMC article.
Comparison of Outcomes of Myeloablative Allogeneic Stem Cell Transplantation for Pediatric Patients with Bone Marrow Failure, Myelodysplastic Syndrome and Acute Myeloid Leukemia with and without Germline GATA2 Mutations.
Hofmann I, Avagyan S, Stetson A, Guo D, Al-Sayegh H, London WB, Lehmann L. Hofmann I, et al. Biol Blood Marrow Transplant. 2020 Jun;26(6):1124-1130. doi: 10.1016/j.bbmt.2020.02.015. Epub 2020 Feb 20. Biol Blood Marrow Transplant. 2020. PMID: 32088370 Free PMC article.
The pyruvate kinase (PK) to hexokinase enzyme activity ratio and erythrocyte PK protein level in the diagnosis and phenotype of PK deficiency.
Al-Samkari H, Addonizio K, Glader B, Morton DH, Chonat S, Thompson AA, Kuo KHM, Ravindranath Y, Wang H, Rothman JA, Kwiatkowski JL, Kung C, Kosinski PA, Al-Sayegh H, London WB, Grace RF. Al-Samkari H, et al. Br J Haematol. 2021 Mar;192(6):1092-1096. doi: 10.1111/bjh.16724. Epub 2020 May 28. Br J Haematol. 2021. PMID: 32463523 Free article. Clinical Trial.
Characterization of the severe phenotype of pyruvate kinase deficiency.
Al-Samkari H, van Beers EJ, Morton DH, Barcellini W, Eber SW, Glader B, Yaish HM, Chonat S, Kuo KHM, Kollmar N, Despotovic JM, Pospíšilová D, Knoll CM, Kwiatkowski JL, Pastore YD, Thompson AA, Wlodarski MW, Ravindranath Y, Rothman JA, Wang H, Holzhauer S, Breakey VR, Verhovsek MM, Kunz J, Sheth S, Sharma M, Rose MJ, Bradeen HA, McNaull MN, Addonizio K, Al-Sayegh H, London WB, Grace RF. Al-Samkari H, et al. Am J Hematol. 2020 Oct;95(10):E281-E285. doi: 10.1002/ajh.25926. Epub 2020 Aug 6. Am J Hematol. 2020. PMID: 32619047 Free article. No abstract available.
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