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Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene.
Hamajima N, Kouwaki M, Vreken P, Matsuda K, Sumi S, Imaeda M, Ohba S, Kidouchi K, Nonaka M, Sasaki M, Tamaki N, Endo Y, De Abreu R, Rotteveel J, van Kuilenburg A, van Gennip A, Togari H, Wada Y. Hamajima N, et al. Am J Hum Genet. 1998 Sep;63(3):717-26. doi: 10.1086/302022. Am J Hum Genet. 1998. PMID: 9718352 Free PMC article.
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency.
Van Kuilenburg AB, Vreken P, Abeling NG, Bakker HD, Meinsma R, Van Lenthe H, De Abreu RA, Smeitink JA, Kayserili H, Apak MY, Christensen E, Holopainen I, Pulkki K, Riva D, Botteon G, Holme E, Tulinius M, Kleijer WJ, Beemer FA, Duran M, Niezen-Koning KE, Smit GP, Jakobs C, Smit LM, Van Gennip AH, et al. Van Kuilenburg AB, et al. Hum Genet. 1999 Jan;104(1):1-9. doi: 10.1007/pl00008711. Hum Genet. 1999. PMID: 10071185 Review.
Dihydropyrimidine dehydrogenase pharmacogenetics in Caucasian subjects.
Ridge SA, Sludden J, Brown O, Robertson L, Wei X, Sapone A, Fernandez-Salguero PM, Gonzalez FJ, Vreken P, van Kuilenburg AB, van Gennip AH, McLeod HL. Ridge SA, et al. Br J Clin Pharmacol. 1998 Aug;46(2):151-6. doi: 10.1046/j.1365-2125.1998.00751.x. Br J Clin Pharmacol. 1998. PMID: 9723824 Free PMC article.
METHODS: Mononuclear cells were isolated from whole blood and DPD activity was determined after ex vivo incubation with 14C-5FU followed by h.p.1.c. analysis of 5FU metabolites. ...
METHODS: Mononuclear cells were isolated from whole blood and DPD activity was determined after ex vivo incubation with 14C-5FU followed by …
Dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil associated toxicity.
van Kuilenburg AB, Haasjes J, Van Lenthe H, Zoetekouw L, Waterham HR, Vreken P, van Gennip AH. van Kuilenburg AB, et al. Adv Exp Med Biol. 2000;486:251-5. doi: 10.1007/0-306-46843-3_49. Adv Exp Med Biol. 2000. PMID: 11783494 No abstract available.
Dihydropyrimidine dehydrogenase (DPD) deficiency: novel mutations in the DPD gene.
van Kuilenburg AB, Haasjes J, Meinsma R, Waterham HR, Vreken P, van Gennip AH. van Kuilenburg AB, et al. Adv Exp Med Biol. 2000;486:247-50. doi: 10.1007/0-306-46843-3_48. Adv Exp Med Biol. 2000. PMID: 11783493 No abstract available.
Clinical implications of dihydropyrimidine dehydrogenase (DPD) deficiency in patients with severe 5-fluorouracil-associated toxicity: identification of new mutations in the DPD gene.
van Kuilenburg AB, Haasjes J, Richel DJ, Zoetekouw L, Van Lenthe H, De Abreu RA, Maring JG, Vreken P, van Gennip AH. van Kuilenburg AB, et al. Clin Cancer Res. 2000 Dec;6(12):4705-12. Clin Cancer Res. 2000. PMID: 11156223
It was observed that 55% of patients with a decreased DPD activity suffered from grade IV neutropenia compared with 13% of patients with a normal DPD activity (P = 0.01). Furthermore, the onset of toxicity occurred, on average, twice as fast in patients with low DPD activi …
It was observed that 55% of patients with a decreased DPD activity suffered from grade IV neutropenia compared with 13% of patients with a n …
Clinical and biochemical abnormalities in a patient with dihydropyrimidine dehydrogenase deficiency due to homozygosity for the C29R mutation.
Van Kuilenburg AB, Vreken P, Riva D, Botteon G, Abeling NG, Bakker HD, Van Gennip AH. Van Kuilenburg AB, et al. J Inherit Metab Dis. 1999 Apr;22(2):191-2. doi: 10.1023/a:1005470524203. J Inherit Metab Dis. 1999. PMID: 10234617 No abstract available.
Severe 5-fluorouracil toxicity caused by reduced dihydropyrimidine dehydrogenase activity due to heterozygosity for a G-->A point mutation.
van Kuilenburg AB, Vreken P, Beex LV, De Abreu RA, van Gennip AH. van Kuilenburg AB, et al. J Inherit Metab Dis. 1998 Jun;21(3):280-4. doi: 10.1023/a:1005384609289. J Inherit Metab Dis. 1998. PMID: 9686375 No abstract available.
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