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Hereditary spherocytosis due to band 3 deficiency: 15 novel mutations in SLC4A1.
Van Zwieten R, François JJ, Van Leeuwen K, Van Wesel AC, Van Bruggen R, Van Solinge WW, Roos D, Verhoeven AJ, Van Wijk R. Van Zwieten R, et al. Among authors: van leeuwen k, van bruggen r, van wesel ac, van wijk r, van solinge ww. Am J Hematol. 2013 Feb;88(2):159-60. doi: 10.1002/ajh.23363. Epub 2012 Dec 17. Am J Hematol. 2013. PMID: 23255290 Free article. No abstract available.
Deletion of leucine 61 in glucose-6-phosphate dehydrogenase leads to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections.
van Bruggen R, Bautista JM, Petropoulou T, de Boer M, van Zwieten R, Gómez-Gallego F, Belohradsky BH, Hartwig NG, Stevens D, Mason PJ, Roos D. van Bruggen R, et al. Among authors: van zwieten r. Blood. 2002 Aug 1;100(3):1026-30. doi: 10.1182/blood.v100.3.1026. Blood. 2002. PMID: 12130518 Free article.
Comparison of Spectrophotometry, Chromate Inhibition, and Cytofluorometry Versus Gene Sequencing for Detection of Heterozygously Glucose-6-Phosphate Dehydrogenase-Deficient Females.
Peters AL, Veldthuis M, van Leeuwen K, Bossuyt PMM, Vlaar APJ, van Bruggen R, de Korte D, Van Noorden CJF, van Zwieten R. Peters AL, et al. Among authors: van zwieten r. J Histochem Cytochem. 2017 Nov;65(11):627-636. doi: 10.1369/0022155417730021. Epub 2017 Sep 13. J Histochem Cytochem. 2017. PMID: 28902532 Free PMC article.
Intrinsic defects in erythroid cells from familial hemophagocytic lymphohistiocytosis type 5 patients identify a role for STXBP2/Munc18-2 in erythropoiesis and phospholipid scrambling.
Kostova EB, Beuger BM, Veldthuis M, van der Werff Ten Bosch J, Kühnle I, van den Akker E, van den Berg TK, van Zwieten R, van Bruggen R. Kostova EB, et al. Among authors: van den akker e, van den berg tk, van zwieten r, van der werff ten bosch j, van bruggen r. Exp Hematol. 2015 Dec;43(12):1072-1076.e2. doi: 10.1016/j.exphem.2015.08.007. Epub 2015 Aug 28. Exp Hematol. 2015. PMID: 26320718 Free article. Clinical Trial.
A Homozygous Mutation on the HBA1 Gene Coding for Hb Charlieu (HBA1: c.320T>C) Together with β-Thalassemia Trait Results in Severe Hemolytic Anemia.
Klei TRL, Kheradmand Kia S, Veldthuis M, Dehbozorgian J, Karimi M, Geissler J, Sellink E, Thiel-Valkhof M, Burger P, van Alphen F, Meijer AB, van Bruggen R, van Zwieten R. Klei TRL, et al. Among authors: van zwieten r. Hemoglobin. 2019 Mar;43(2):77-82. doi: 10.1080/03630269.2019.1601107. Epub 2019 Jun 13. Hemoglobin. 2019. PMID: 31190578
59 results