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Page 1
ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.
van Kuilenburg AB, Dobritzsch D, Meijer J, Krumpel M, Selim LA, Rashed MS, Assmann B, Meinsma R, Lohkamp B, Ito T, Abeling NG, Saito K, Eto K, Smitka M, Engvall M, Zhang C, Xu W, Zoetekouw L, Hennekam RC. van Kuilenburg AB, et al. Biochim Biophys Acta. 2012 Jul;1822(7):1096-108. doi: 10.1016/j.bbadis.2012.04.001. Epub 2012 Apr 14. Biochim Biophys Acta. 2012. PMID: 22525402 Free article.
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.
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
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
Pyrimidine degradation defects and severe 5-fluorouracil toxicity.
van Kuilenburg AB, Meinsma R, van Gennip AH. van Kuilenburg AB, et al. Among authors: van gennip ah. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1371-5. doi: 10.1081/NCN-200027624. Nucleosides Nucleotides Nucleic Acids. 2004. PMID: 15571261 Review.
276 results