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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
Purine and pyrimidine metabolism: new challenges.
Peters GJ, van Kuilenburg AB, de Abreu RA. Peters GJ, et al. Among authors: van kuilenburg ab. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1077-9. doi: 10.1081/NCN-200027355. Nucleosides Nucleotides Nucleic Acids. 2004. PMID: 15571205 No abstract available.
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.
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