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Molecular basis and enzymatic properties of glucose 6-phosphate dehydrogenase volendam, leading to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections.
Roos D, van Zwieten R, Wijnen JT, Gómez-Gallego F, de Boer M, Stevens D, Pronk-Admiraal CJ, de Rijk T, van Noorden CJ, Weening RS, Vulliamy TJ, Ploem JE, Mason PJ, Bautista JM, Khan PM, Beutler E. Roos D, et al. Blood. 1999 Nov 1;94(9):2955-62. Blood. 1999. PMID: 10556177 Free article.
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: roos d. Blood. 2002 Aug 1;100(3):1026-30. doi: 10.1182/blood.v100.3.1026. Blood. 2002. PMID: 12130518 Free article.
[Molecular genetic studies in alpha-thalassemia].
de Korte D, Cuypers HT, de Klein A, Winkel I, Vuil H, Roos D. de Korte D, et al. Among authors: roos d. Ned Tijdschr Geneeskd. 1992 May 2;136(18):872-5. Ned Tijdschr Geneeskd. 1992. PMID: 1350329 Dutch.
A Dutch family with Hb Atlanta [beta 75(E19)Leu-->Pro].
Aygün V, van Zwieten R, Pronk-Admiraal CJ, Ponjee GA, de Regt J, Harteveld CL, Giordano PC, Roos D. Aygün V, et al. Among authors: roos d. Hemoglobin. 1996 Nov;20(4):351-9. doi: 10.3109/03630269609005839. Hemoglobin. 1996. PMID: 8936461
Molecular basis of glutathione reductase deficiency in human blood cells.
Kamerbeek NM, van Zwieten R, de Boer M, Morren G, Vuil H, Bannink N, Lincke C, Dolman KM, Becker K, Schirmer RH, Gromer S, Roos D. Kamerbeek NM, et al. Among authors: roos d. Blood. 2007 Apr 15;109(8):3560-6. doi: 10.1182/blood-2006-08-042531. Epub 2006 Dec 21. Blood. 2007. PMID: 17185460 Free article.
963 results