van Wijk R - Search Results

1

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.

2

Clinical expression of a rare beta-globin gene mutation co-inherited with haemoglobin E-disease.

van Solinge WW, Lind B, van Wijk R, Hart HC, Kraaijenhagen RJ. van Solinge WW, et al. Among authors: van wijk r. Eur J Clin Chem Clin Biochem. 1996 Dec;34(12):949-54. doi: 10.1515/cclm.1996.34.12.949. Eur J Clin Chem Clin Biochem. 1996. PMID: 8986398

3

Molecular modelling of human red blood cell pyruvate kinase: structural implications of a novel G1091 to a mutation causing severe nonspherocytic hemolytic anemia.

van Solinge WW, Kraaijenhagen RJ, Rijksen G, van Wijk R, Stoffer BB, Gajhede M, Nielsen FC. van Solinge WW, et al. Among authors: van wijk r. Blood. 1997 Dec 15;90(12):4987-95. Blood. 1997. PMID: 9389718 Free article.

4

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.

5

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.

6

Nature of the fibrinogen Aalpha gene TaqI polymorphism.

Remijn JA, van Wijk R, de Groot PG, van Solinge WW. Remijn JA, et al. Among authors: van wijk r, van solinge ww. Thromb Haemost. 2001 Sep;86(3):935-6. Thromb Haemost. 2001. PMID: 11583334 No abstract available.

7

A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies.

Buijs A, Poddighe P, van Wijk R, van Solinge W, Borst E, Verdonck L, Hagenbeek A, Pearson P, Lokhorst H. Buijs A, et al. Among authors: van wijk r, van solinge w. Blood. 2001 Nov 1;98(9):2856-8. doi: 10.1182/blood.v98.9.2856. Blood. 2001. PMID: 11675361 Free article.

8

Congenital afibrinogenaemia in a newborn infant due to a novel mutation in the fibrinogen aalpha gene.

Vlietman JJ, Verhage J, Vos HL, van Wijk R, Remijn JA, van Solinge WW, Brus F. Vlietman JJ, et al. Among authors: van wijk r, van solinge ww. Br J Haematol. 2002 Oct;119(1):282-3. doi: 10.1046/j.1365-2141.2002.377910.x. Br J Haematol. 2002. PMID: 12358944 Free article. No abstract available.

9

[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.

10

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.

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