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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. Among authors: chonat s. 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.
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. Among authors: chonat s. 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.
The Spectrum of SPTA1-Associated Hereditary Spherocytosis.
Chonat S, Risinger M, Sakthivel H, Niss O, Rothman JA, Hsieh L, Chou ST, Kwiatkowski JL, Khandros E, Gorman MF, Wells DT, Maghathe T, Dagaonkar N, Seu KG, Zhang K, Zhang W, Kalfa TA. Chonat S, et al. Front Physiol. 2019 Jul 3;10:815. doi: 10.3389/fphys.2019.00815. eCollection 2019. Front Physiol. 2019. PMID: 31333484 Free PMC article.
Corrigendum: The Spectrum of SPTA1-Associated Hereditary Spherocytosis.
Chonat S, Risinger M, Sakthivel H, Niss O, Rothman JA, Hsieh L, Chou ST, Kwiatkowski JL, Khandros E, Gorman MF, Wells DT, Maghathe T, Dagaonkar N, Seu KG, Zhang K, Zhang W, Kalfa TA. Chonat S, et al. Front Physiol. 2019 Oct 18;10:1331. doi: 10.3389/fphys.2019.01331. eCollection 2019. Front Physiol. 2019. PMID: 31736770 Free PMC 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. Among authors: chonat s. 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.
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. Among authors: chonat s. 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. Among authors: chonat s. 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.
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. Boscoe AN, et al. Among authors: chonat s. Eur J Haematol. 2021 Apr;106(4):484-492. doi: 10.1111/ejh.13572. Epub 2021 Jan 24. Eur J Haematol. 2021. PMID: 33370479 Free PMC article.
Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR).
Niss O, Lorsbach RB, Berger M, Chonat S, McLemore M, Buchbinder D, McCavit T, Shaffer LG, Simpson J, Schwartz JH, Meznarich J, Emberesh M, Seu KG, Zhang W, Kalfa TA; CDAR consortium. Niss O, et al. Among authors: chonat s. Blood Cells Mol Dis. 2021 Mar;87:102534. doi: 10.1016/j.bcmd.2020.102534. Epub 2020 Dec 24. Blood Cells Mol Dis. 2021. PMID: 33401150 Free PMC article. Clinical Trial.
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. Chonat S, et al. Pediatr Blood Cancer. 2021 Sep;68(9):e29148. doi: 10.1002/pbc.29148. Epub 2021 Jun 14. Pediatr Blood Cancer. 2021. PMID: 34125488
72 results