van Kuilenburg AB - Search Results

1

Arts syndrome is caused by loss-of-function mutations in PRPS1.

de Brouwer AP, Williams KL, Duley JA, van Kuilenburg AB, Nabuurs SB, Egmont-Petersen M, Lugtenberg D, Zoetekouw L, Banning MJ, Roeffen M, Hamel BC, Weaving L, Ouvrier RA, Donald JA, Wevers RA, Christodoulou J, van Bokhoven H. de Brouwer AP, et al. Among authors: van kuilenburg ab, van bokhoven h. Am J Hum Genet. 2007 Sep;81(3):507-18. doi: 10.1086/520706. Epub 2007 Aug 3. Am J Hum Genet. 2007. PMID: 17701896 Free PMC article.

2

Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure.

van Kuilenburg AB, Dobritzsch D, Meinsma R, Haasjes J, Waterham HR, Nowaczyk MJ, Maropoulos GD, Hein G, Kalhoff H, Kirk JM, Baaske H, Aukett A, Duley JA, Ward KP, Lindqvist Y, van Gennip AH. van Kuilenburg AB, et al. Among authors: van gennip ah. Biochem J. 2002 May 15;364(Pt 1):157-63. doi: 10.1042/bj3640157. Biochem J. 2002. PMID: 11988088 Free PMC article.

3

Increased risk of grade IV neutropenia after administration of 5-fluorouracil due to a dihydropyrimidine dehydrogenase deficiency: high prevalence of the IVS14+1g>a mutation.

Van Kuilenburg AB, Meinsma R, Zoetekouw L, Van Gennip AH. Van Kuilenburg AB, et al. Among authors: van gennip ah. Int J Cancer. 2002 Sep 20;101(3):253-8. doi: 10.1002/ijc.10599. Int J Cancer. 2002. PMID: 12209976

4

High prevalence of the IVS14 + 1G>A mutation in the dihydropyrimidine dehydrogenase gene of patients with severe 5-fluorouracil-associated toxicity.

Van Kuilenburg AB, Meinsma R, Zoetekouw L, Van Gennip AH. Van Kuilenburg AB, et al. Among authors: van gennip ah. Pharmacogenetics. 2002 Oct;12(7):555-8. doi: 10.1097/00008571-200210000-00007. Pharmacogenetics. 2002. PMID: 12360106

5

Dihydropyrimidinase deficiency and severe 5-fluorouracil toxicity.

van Kuilenburg AB, Meinsma R, Zonnenberg BA, Zoetekouw L, Baas F, Matsuda K, Tamaki N, van Gennip AH. van Kuilenburg AB, et al. Among authors: van gennip ah. Clin Cancer Res. 2003 Oct 1;9(12):4363-7. Clin Cancer Res. 2003. PMID: 14555507

6

beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities.

van Kuilenburg AB, Meinsma R, Beke E, Assmann B, Ribes A, Lorente I, Busch R, Mayatepek E, Abeling NG, van Cruchten A, Stroomer AE, van Lenthe H, Zoetekouw L, Kulik W, Hoffmann GF, Voit T, Wevers RA, Rutsch F, van Gennip AH. van Kuilenburg AB, et al. Among authors: van gennip ah, van lenthe h, van cruchten a. Hum Mol Genet. 2004 Nov 15;13(22):2793-801. doi: 10.1093/hmg/ddh303. Epub 2004 Sep 22. Hum Mol Genet. 2004. PMID: 15385443

7

Determination of thymidine phosphorylase activity by a non-radiochemical assay using reversed-phase high-performance liquid chromatography.

van Kuilenburg AB, Zoetekouw L. van Kuilenburg AB, et al. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Jun 25;820(2):271-275. doi: 10.1016/j.jchromb.2005.04.009. J Chromatogr B Analyt Technol Biomed Life Sci. 2005. PMID: 15893964

8

Determination of thymidine phosphorylase activity in human blood cells and fibroblasts by a nonradiochemical assay using reversed-phase high-performance liquid chromatography.

van Kuilenburg AB, Zoetekouw L. van Kuilenburg AB, et al. Nucleosides Nucleotides Nucleic Acids. 2006;25(9-11):1261-4. doi: 10.1080/15257770600889006. Nucleosides Nucleotides Nucleic Acids. 2006. PMID: 17065103

9

Increased dihydropyrimidine dehydrogenase activity associated with mild toxicity in patients treated with 5-fluorouracil and leucovorin.

van Kuilenburg AB, Klumpen HJ, Westermann AM, Zoetekouw L, Van Lenthe H, Bakker PJ, Richel DJ, Guchelaar HJ. van Kuilenburg AB, et al. Among authors: van lenthe h. Eur J Cancer. 2007 Jan;43(2):459-65. doi: 10.1016/j.ejca.2006.09.017. Epub 2006 Nov 13. Eur J Cancer. 2007. PMID: 17097873

10

HPLC-electrospray tandem mass spectrometry for rapid determination of dihydropyrimidine dehydrogenase activity.

van Kuilenburg AB, van Lenthe H, Zoetekouw L, Kulik W. van Kuilenburg AB, et al. Among authors: van lenthe h. Clin Chem. 2007 Mar;53(3):528-30. doi: 10.1373/clinchem.2006.074096. Epub 2007 Feb 1. Clin Chem. 2007. PMID: 17272486

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