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Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review.
van Dijk MJ, van Oirschot BA, Stam-Slob MC, Waanders E, van der Zwaag B, van Beers EJ, Jans JJM, van der Linden PW, Torregrosa Diaz JM, Gardie B, Girodon F, Schots R, Thielen N, van Wijk R. van Dijk MJ, et al. Br J Haematol. 2023 Jan;200(2):249-255. doi: 10.1111/bjh.18485. Epub 2022 Sep 30. Br J Haematol. 2023. PMID: 36177683 Free PMC article. Review.
Safety and efficacy of mitapivat, an oral pyruvate kinase activator, in sickle cell disease: A phase 2, open-label study.
van Dijk MJ, Rab MAE, van Oirschot BA, Bos J, Derichs C, Rijneveld AW, Cnossen MH, Nur E, Biemond BJ, Bartels M, Jans JJM, van Solinge WW, Schutgens REG, van Wijk R, van Beers EJ. van Dijk MJ, et al. Am J Hematol. 2022 Jul;97(7):E226-E229. doi: 10.1002/ajh.26554. Epub 2022 Apr 16. Am J Hematol. 2022. PMID: 35384026 Free article. Clinical Trial. No abstract available.
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. Am J Hematol. 2023 Dec;98(12):1877-1887. doi: 10.1002/ajh.27088. Epub 2023 Sep 6. Am J Hematol. 2023. PMID: 37671681
One-year safety and efficacy of mitapivat in sickle cell disease: follow-up results of a phase 2, open-label study.
van Dijk MJ, Rab MAE, van Oirschot BA, Bos J, Derichs C, Rijneveld AW, Cnossen MH, Nur E, Biemond BJ, Bartels M, Jans JJM, van Solinge WW, Schutgens REG, van Wijk R, van Beers EJ. van Dijk MJ, et al. Blood Adv. 2023 Dec 26;7(24):7539-7550. doi: 10.1182/bloodadvances.2023011477. Blood Adv. 2023. PMID: 37934880 Free PMC article. Clinical Trial.
17 results