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The variable manifestations of disease in pyruvate kinase deficiency and their management.
Al-Samkari H, Van Beers EJ, Kuo KHM, Barcellini W, Bianchi P, Glenthøj A, Del Mar Mañú Pereira M, Van Wijk R, Glader B, Grace RF. Al-Samkari H, et al. Among authors: van wijk r, van beers ej. Haematologica. 2020 Sep 1;105(9):2229-2239. doi: 10.3324/haematol.2019.240846. Haematologica. 2020. PMID: 33054048 Free PMC article.
First mutation in the red blood cell-specific promoter of hexokinase combined with a novel missense mutation causes hexokinase deficiency and mild chronic hemolysis.
de Vooght KM, van Solinge WW, van Wesel AC, Kersting S, van Wijk R. de Vooght KM, et al. Among authors: van wesel ac, van wijk r, van solinge ww. Haematologica. 2009 Sep;94(9):1203-10. doi: 10.3324/haematol.2008.002881. Epub 2009 Jul 16. Haematologica. 2009. PMID: 19608687 Free PMC article.
A role for activated endothelial cells in red blood cell clearance: implications for vasopathology.
Fens MH, van Wijk R, Andringa G, van Rooijen KL, Dijstelbloem HM, Rasmussen JT, de Vooght KM, Schiffelers RM, Gaillard CA, van Solinge WW. Fens MH, et al. Among authors: van rooijen kl, van wijk r, van solinge ww. Haematologica. 2012 Apr;97(4):500-8. doi: 10.3324/haematol.2011.048694. Epub 2011 Nov 18. Haematologica. 2012. PMID: 22102700 Free PMC article.
Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation.
Mañú-Pereira Mdel M, Gonzalez-Roca E, van Solinge WW, Llaudet-Planas E, Sevilla J, Montllor L, Mensa-Vilaro A, Ploos van Amstel HK, van Wijk R, Vives-Corrons J. Mañú-Pereira Mdel M, et al. Among authors: van wijk r, van solinge ww. Am J Hematol. 2015 Dec;90(12):E217-9. doi: 10.1002/ajh.24178. Epub 2015 Nov 17. Am J Hematol. 2015. PMID: 26315463 Free article. No abstract available.
619 results