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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: holzhauer 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.
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. Among authors: holzhauer s. Pediatr Blood Cancer. 2021 Sep;68(9):e29148. doi: 10.1002/pbc.29148. Epub 2021 Jun 14. Pediatr Blood Cancer. 2021. PMID: 34125488
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: holzhauer 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.
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: holzhauer 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.
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. Al-Samkari H, et al. N Engl J Med. 2022 Apr 14;386(15):1432-1442. doi: 10.1056/NEJMoa2116634. N Engl J Med. 2022. PMID: 35417638 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: holzhauer 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.
Arteriopathy Influences Pediatric Ischemic Stroke Presentation, but Sickle Cell Disease Influences Stroke Management.
Guilliams KP, Kirkham FJ, Holzhauer S, Pavlakis S, Philbrook B, Amlie-Lefond C, Noetzel MJ, Dlamini N, Sharma M, Carpenter JL, Fox CK, Torres M, Ichord RN, Jordan LC, Dowling MM. Guilliams KP, et al. Among authors: holzhauer s. Stroke. 2019 May;50(5):1089-1094. doi: 10.1161/STROKEAHA.118.022800. Stroke. 2019. PMID: 31009343 Free PMC article.
Eltrombopag for children with chronic immune thrombocytopenia (PETIT2): a randomised, multicentre, placebo-controlled trial.
Grainger JD, Locatelli F, Chotsampancharoen T, Donyush E, Pongtanakul B, Komvilaisak P, Sosothikul D, Drelichman G, Sirachainan N, Holzhauer S, Lebedev V, Lemons R, Pospisilova D, Ramenghi U, Bussel JB, Bakshi KK, Iyengar M, Chan GW, Chagin KD, Theodore D, Marcello LM, Bailey CK. Grainger JD, et al. Among authors: holzhauer s. Lancet. 2015 Oct 24;386(10004):1649-58. doi: 10.1016/S0140-6736(15)61107-2. Epub 2015 Jul 28. Lancet. 2015. PMID: 26231455 Clinical Trial.
Newly diagnosed immune thrombocytopenia in children and adults: a comparative prospective observational registry of the Intercontinental Cooperative Immune Thrombocytopenia Study Group.
Kühne T, Berchtold W, Michaels LA, Wu R, Donato H, Espina B, Tamary H, Rodeghiero F, Chitlur M, Rischewski J, Imbach P; Intercontinental Cooperative ITP Study Group. Kühne T, et al. Haematologica. 2011 Dec;96(12):1831-7. doi: 10.3324/haematol.2011.050799. Epub 2011 Aug 31. Haematologica. 2011. PMID: 21880634 Free PMC article. Clinical Trial.
82 results