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A novel missense variant in ATP11C is associated with reduced red blood cell phosphatidylserine flippase activity and mild hereditary hemolytic anemia.
van Dijk MJ, van Oirschot BA, Harrison AN, Recktenwald SM, Qiao M, Stommen A, Cloos AS, Vanderroost J, Terrasi R, Dey K, Bos J, Rab MAE, Bogdanova A, Minetti G, Muccioli GG, Tyteca D, Egée S, Kaestner L, Molday RS, van Beers EJ, van Wijk R. van Dijk MJ, et al. Among authors: van beers ej. Am J Hematol. 2023 Dec;98(12):1877-1887. doi: 10.1002/ajh.27088. Epub 2023 Sep 6. Am J Hematol. 2023. PMID: 37671681
Sickle Cell Imaging Flow Cytometry Assay (SIFCA).
Fertrin KY, Samsel L, van Beers EJ, Mendelsohn L, Kato GJ, McCoy JP Jr. Fertrin KY, et al. Among authors: van beers ej. Methods Mol Biol. 2016;1389:279-92. doi: 10.1007/978-1-4939-3302-0_20. Methods Mol Biol. 2016. PMID: 27460253 Free PMC article.
Sickle cell disease: Clinical presentation and management of a global health challenge.
Houwing ME, de Pagter PJ, van Beers EJ, Biemond BJ, Rettenbacher E, Rijneveld AW, Schols EM, Philipsen JNJ, Tamminga RYJ, van Draat KF, Nur E, Cnossen MH; SCORE Consortium. Houwing ME, et al. Among authors: van draat kf, van beers ej. Blood Rev. 2019 Sep;37:100580. doi: 10.1016/j.blre.2019.05.004. Epub 2019 May 20. Blood Rev. 2019. PMID: 31128863 Review.
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: van beers ej. 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.
101 results