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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.
Beta-ureidopropionase deficiency presenting with febrile status epilepticus.
Assmann BE, Van Kuilenburg AB, Distelmaier F, Abeling NG, Rosenbaum T, Schaper J, Duran M, Mayatepek E. Assmann BE, et al. Among authors: van kuilenburg ab. Epilepsia. 2006 Jan;47(1):215-7. doi: 10.1111/j.1528-1167.2006.00391.x. Epilepsia. 2006. PMID: 16417553 Free article.
Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency.
van Kuilenburg AB, Meinsma R, Assman B, Hoffman GF, Voit T, Ribes A, Lorente I, Busch R, Mayatepek E, Abeling NG, Wevers RA, Rutsch F, van Gennip AH. van Kuilenburg AB, et al. Among authors: van gennip ah. Nucleosides Nucleotides Nucleic Acids. 2006;25(9-11):1093-8. doi: 10.1080/15257770600956870. Nucleosides Nucleotides Nucleic Acids. 2006. PMID: 17065070
Activity of pyrimidine degradation enzymes in normal tissues.
van Kuilenburg AB, van Lenthe H, van Gennip AH. van Kuilenburg AB, et al. Among authors: van gennip ah, van lenthe h. Nucleosides Nucleotides Nucleic Acids. 2006;25(9-11):1211-4. doi: 10.1080/15257770600894576. Nucleosides Nucleotides Nucleic Acids. 2006. PMID: 17065093
276 results