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Page 1
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: wlodarski mw. 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.
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: wlodarski mw. 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.
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: wlodarski mw. 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.
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: wlodarski mw. 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.
Diagnostic work-up for severe aplastic anemia in children: Consensus of the North American Pediatric Aplastic Anemia Consortium.
Shimano KA, Narla A, Rose MJ, Gloude NJ, Allen SW, Bergstrom K, Broglie L, Carella BA, Castillo P, de Jong JLO, Dror Y, Geddis AE, Huang JN, Lau BW, McGuinn C, Nakano TA, Overholt K, Rothman JA, Sharathkumar A, Shereck E, Vlachos A, Olson TS, Bertuch AA, Wlodarski MW, Shimamura A, Boklan J. Shimano KA, et al. Among authors: wlodarski mw. Am J Hematol. 2021 Nov 1;96(11):1491-1504. doi: 10.1002/ajh.26310. Epub 2021 Aug 20. Am J Hematol. 2021. PMID: 34342889 Free article.
Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A.
Gianferante MD, Wlodarski MW, Atsidaftos E, Da Costa L, Delaporta P, Farrar JE, Goldman FD, Hussain M, Kattamis A, Leblanc T, Lipton JM, Niemeyer CM, Pospisilova D, Quarello P, Ramenghi U, Sankaran VG, Vlachos A, Volejnikova J, Alter BP, Savage SA, Giri N. Gianferante MD, et al. Among authors: wlodarski mw. Haematologica. 2021 May 1;106(5):1303-1310. doi: 10.3324/haematol.2020.246629. Haematologica. 2021. PMID: 32241839 Free PMC article.
GATA2 deficiency and related myeloid neoplasms.
Wlodarski MW, Collin M, Horwitz MS. Wlodarski MW, et al. Semin Hematol. 2017 Apr;54(2):81-86. doi: 10.1053/j.seminhematol.2017.05.002. Epub 2017 May 10. Semin Hematol. 2017. PMID: 28637621 Free PMC article.
Heterogeneity of GATA2-related myeloid neoplasms.
Hirabayashi S, Wlodarski MW, Kozyra E, Niemeyer CM. Hirabayashi S, et al. Among authors: wlodarski mw. Int J Hematol. 2017 Aug;106(2):175-182. doi: 10.1007/s12185-017-2285-2. Epub 2017 Jun 22. Int J Hematol. 2017. PMID: 28643018 Review.
Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia.
Wlodarski MW, Da Costa L, O'Donohue MF, Gastou M, Karboul N, Montel-Lehry N, Hainmann I, Danda D, Szvetnik A, Pastor V, Paolini N, di Summa FM, Tamary H, Quider AA, Aspesi A, Houtkooper RH, Leblanc T, Niemeyer CM, Gleizes PE, MacInnes AW. Wlodarski MW, et al. Haematologica. 2018 Jun;103(6):949-958. doi: 10.3324/haematol.2017.177980. Epub 2018 Mar 29. Haematologica. 2018. PMID: 29599205 Free PMC article.
96 results