Huizinga EG - Search Results

1

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: huizinga eg. Blood. 2001 Jul 15;98(2):358-67. doi: 10.1182/blood.v98.2.358. Blood. 2001. PMID: 11435304 Free article.

2

Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid substitutions in PK.

van Wijk R, Huizinga EG, van Wesel AC, van Oirschot BA, Hadders MA, van Solinge WW. van Wijk R, et al. Among authors: huizinga eg. Hum Mutat. 2009 Mar;30(3):446-53. doi: 10.1002/humu.20915. Hum Mutat. 2009. PMID: 19085939

3

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: huizinga eg. 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.

4

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: huizinga eg. 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

5

Erythrocytosis associated with a novel missense mutation in the HIF2A gene.

van Wijk R, Sutherland S, Van Wesel AC, Huizinga EG, Percy MJ, Bierings M, Lee FS. van Wijk R, et al. Among authors: huizinga eg. Haematologica. 2010 May;95(5):829-32. doi: 10.3324/haematol.2009.017582. Epub 2009 Dec 8. Haematologica. 2010. PMID: 20007141 Free PMC article.

6

von Willebrand factor proteolysis is deficient in classic, but not in bone marrow transplantation-associated, thrombotic thrombocytopenic purpura.

van der Plas RM, Schiphorst ME, Huizinga EG, Hené RJ, Verdonck LF, Sixma JJ, Fijnheer R. van der Plas RM, et al. Among authors: huizinga eg. Blood. 1999 Jun 1;93(11):3798-802. Blood. 1999. PMID: 10339486 Free article.

7

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.

Sivapalaratnam S, Westbury SK, Stephens JC, Greene D, Downes K, Kelly AM, Lentaigne C, Astle WJ, Huizinga EG, Nurden P, Papadia S, Peerlinck K, Penkett CJ, Perry DJ, Roughley C, Simeoni I, Stirrups K, Hart DP, Tait RC, Mumford AD; NIHR BioResource; Laffan MA, Freson K, Ouwehand WH, Kunishima S, Turro E. Sivapalaratnam S, et al. Among authors: huizinga eg. Blood. 2017 Jan 26;129(4):520-524. doi: 10.1182/blood-2016-08-732248. Epub 2016 Nov 14. Blood. 2017. PMID: 28064200 Free PMC article.

8

Crystal structure and collagen-binding site of immune inhibitory receptor LAIR-1: unexpected implications for collagen binding by platelet receptor GPVI.

Brondijk TH, de Ruiter T, Ballering J, Wienk H, Lebbink RJ, van Ingen H, Boelens R, Farndale RW, Meyaard L, Huizinga EG. Brondijk TH, et al. Among authors: huizinga eg. Blood. 2010 Feb 18;115(7):1364-73. doi: 10.1182/blood-2009-10-246322. Epub 2009 Dec 10. Blood. 2010. PMID: 20007810 Free article.

9

Crystal structures of TAFI elucidate the inactivation mechanism of activated TAFI: a novel mechanism for enzyme autoregulation.

Marx PF, Brondijk TH, Plug T, Romijn RA, Hemrika W, Meijers JC, Huizinga EG. Marx PF, et al. Among authors: huizinga eg. Blood. 2008 Oct 1;112(7):2803-9. doi: 10.1182/blood-2008-03-146001. Epub 2008 Jun 17. Blood. 2008. PMID: 18559974 Free article.

10

Structural insights into collagen binding by platelet receptor glycoprotein VI.

Feitsma LJ, Brondijk HC, Jarvis GE, Hagemans D, Bihan D, Jerah N, Versteeg M, Farndale RW, Huizinga EG. Feitsma LJ, et al. Among authors: huizinga eg. Blood. 2022 May 19;139(20):3087-3098. doi: 10.1182/blood.2021013614. Blood. 2022. PMID: 35245360 Free article.

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