van Wijk R - Search Results

1

Transfusion burden in early childhood plays an important role in iron overload in Diamond-Blackfan anaemia.

de Wilde JRA, van Dooijeweert B, van Vuren AJ, Huisman EJ, Smiers FJ, van der Veer A, van Wijk R, van Solinge WW, Nieuwenhuis EES, van Beers EJ, Bartels M. de Wilde JRA, et al. Among authors: van wijk r, van der veer a, van solinge ww, van beers ej, van dooijeweert b, van vuren aj. EJHaem. 2022 Aug 30;3(4):1300-1304. doi: 10.1002/jha2.524. eCollection 2022 Nov. EJHaem. 2022. PMID: 36467824 Free PMC article.

2

Five novel mutations in the gene for human blood coagulation factor V associated with type I factor V deficiency.

van Wijk R, Nieuwenhuis K, van den Berg M, Huizinga EG, van der Meijden BB, Kraaijenhagen RJ, van Solinge WW. van Wijk R, et al. Among authors: van den berg m, van solinge ww, van der meijden bb. Blood. 2001 Jul 15;98(2):358-67. doi: 10.1182/blood.v98.2.358. Blood. 2001. PMID: 11435304 Free article.

3

Coexistence of a novel homozygous nonsense mutation in exon 13 of the factor V gene with the homozygous Leiden mutation in two unrelated patients with severe factor V deficiency.

van Wijk R, Montefusco MC, Duga S, Asselta R, van Solinge W, Malcovati M, Tenchini ML, Mannucci PM. van Wijk R, et al. Among authors: van solinge w. Br J Haematol. 2001 Sep;114(4):871-4. doi: 10.1046/j.1365-2141.2001.03016.x. Br J Haematol. 2001. PMID: 11564077 Free article.

4

[From gene to disease; hereditary non-spherocytic hemolytic anemia caused by pyruvate kinase deficiency].

de Vooght KM, van Wijk R, Nieuwenhuis HK, Ploos van Amstel JK, Rijksen G, van Solinge WW. de Vooght KM, et al. Among authors: van wijk r, van solinge ww. Ned Tijdschr Geneeskd. 2002 Sep 28;146(39):1828-31. Ned Tijdschr Geneeskd. 2002. PMID: 12382367 Dutch.

5

Disruption of a novel regulatory element in the erythroid-specific promoter of the human PKLR gene causes severe pyruvate kinase deficiency.

van Wijk R, van Solinge WW, Nerlov C, Beutler E, Gelbart T, Rijksen G, Nielsen FC. van Wijk R, et al. Among authors: van solinge ww. Blood. 2003 Feb 15;101(4):1596-602. doi: 10.1182/blood-2002-07-2321. Epub 2002 Sep 26. Blood. 2003. PMID: 12393511 Free article.

6

HK Utrecht: missense mutation in the active site of human hexokinase associated with hexokinase deficiency and severe nonspherocytic hemolytic anemia.

van Wijk R, Rijksen G, Huizinga EG, Nieuwenhuis HK, van Solinge WW. van Wijk R, et al. Among authors: van solinge ww. Blood. 2003 Jan 1;101(1):345-7. doi: 10.1182/blood-2002-06-1851. Epub 2002 Aug 8. Blood. 2003. PMID: 12393545 Free article.

7

Molecular basis of congenital afibrinogenaemia in a Dutch family.

Remijn JA, van Wijk R, Nieuwenhuis HK, de Groot PG, van Solinge WW. Remijn JA, et al. Among authors: van wijk r, van solinge ww. Blood Coagul Fibrinolysis. 2003 Apr;14(3):299-302. doi: 10.1097/01.mbc.0000061285.28953.be. Blood Coagul Fibrinolysis. 2003. PMID: 12695755

8

Distinct phenotypic expression of two de novo missense mutations affecting the dimer interface of glucose-6-phosphate dehydrogenase.

van Wijk R, Huizinga EG, Prins I, Kors A, Rijksen G, Bierings M, van Solinge WW. van Wijk R, et al. Among authors: van solinge ww. Blood Cells Mol Dis. 2004 Jan-Feb;32(1):112-7. doi: 10.1016/j.bcmd.2003.10.006. Blood Cells Mol Dis. 2004. PMID: 14757424

9

Pyruvate kinase regulatory element 1 (PKR-RE1) mediates hexokinase gene expression in K562 cells.

de Vooght KM, van Wijk R, van Oirschot BA, Rijksen G, van Solinge WW. de Vooght KM, et al. Among authors: van oirschot ba, van wijk r, van solinge ww. Blood Cells Mol Dis. 2005 Mar-Apr;34(2):186-90. doi: 10.1016/j.bcmd.2004.10.002. Blood Cells Mol Dis. 2005. PMID: 15727904

10

The energy-less red blood cell is lost: erythrocyte enzyme abnormalities of glycolysis.

van Wijk R, van Solinge WW. van Wijk R, et al. Among authors: van solinge ww. Blood. 2005 Dec 15;106(13):4034-42. doi: 10.1182/blood-2005-04-1622. Epub 2005 Jul 28. Blood. 2005. PMID: 16051738 Free article. Review.

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