186 related articles for article (PubMed ID: 7832988)
1. Human polymorphism in drug metabolism: mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine uracilurea.
Meinsma R; Fernandez-Salguero P; Van Kuilenburg AB; Van Gennip AH; Gonzalez FJ
DNA Cell Biol; 1995 Jan; 14(1):1-6. PubMed ID: 7832988
[TBL] [Abstract][Full Text] [Related]
2. A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency.
Vreken P; Van Kuilenburg AB; Meinsma R; Smit GP; Bakker HD; De Abreu RA; van Gennip AH
J Inherit Metab Dis; 1996; 19(5):645-54. PubMed ID: 8892022
[TBL] [Abstract][Full Text] [Related]
3. Lack of correlation between phenotype and genotype for the polymorphically expressed dihydropyrimidine dehydrogenase in a family of Pakistani origin.
Fernandez-Salguero PM; Sapone A; Wei X; Holt JR; Jones S; Idle JR; Gonzalez FJ
Pharmacogenetics; 1997 Apr; 7(2):161-3. PubMed ID: 9170156
[TBL] [Abstract][Full Text] [Related]
4. Profound dihydropyrimidine dehydrogenase deficiency resulting from a novel compound heterozygote genotype.
Johnson MR; Wang K; Diasio RB
Clin Cancer Res; 2002 Mar; 8(3):768-74. PubMed ID: 11895907
[TBL] [Abstract][Full Text] [Related]
5. Molecular basis of the human dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity.
Wei X; McLeod HL; McMurrough J; Gonzalez FJ; Fernandez-Salguero P
J Clin Invest; 1996 Aug; 98(3):610-5. PubMed ID: 8698850
[TBL] [Abstract][Full Text] [Related]
6. Dihydropyrimidine dehydrogenase deficiency. Identification of two novel mutations and expression of missense mutations in E. coli.
Vreken P; van Kuilenburg AB; Meinsma R; van Gennip AH
Adv Exp Med Biol; 1998; 431():341-6. PubMed ID: 9598088
[No Abstract] [Full Text] [Related]
7. Prevalence of a common point mutation in the dihydropyrimidine dehydrogenase (DPD) gene within the 5'-splice donor site of intron 14 in patients with severe 5-fluorouracil (5-FU)- related toxicity compared with controls.
Raida M; Schwabe W; Häusler P; Van Kuilenburg AB; Van Gennip AH; Behnke D; Höffken K
Clin Cancer Res; 2001 Sep; 7(9):2832-9. PubMed ID: 11555601
[TBL] [Abstract][Full Text] [Related]
8. 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
Biochem J; 2002 May; 364(Pt 1):157-63. PubMed ID: 11988088
[TBL] [Abstract][Full Text] [Related]
9. 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
Clin Cancer Res; 2000 Dec; 6(12):4705-12. PubMed ID: 11156223
[TBL] [Abstract][Full Text] [Related]
10. Diagnosis of dihydropyrimidine dehydrogenase deficiency in a neonate with thymine-uraciluria.
Au KM; Lai CK; Yuen YP; Shek CC; Lam CW; Chan AY
Hong Kong Med J; 2003 Apr; 9(2):130-2. PubMed ID: 12668826
[TBL] [Abstract][Full Text] [Related]
11. Identification of a four-base deletion (delTCAT296-299) in the dihydropyrimidine dehydrogenase gene with variable clinical expression.
Vreken P; Van Kuilenburg AB; Meinsma R; De Abreu RA; Van Gennip AH
Hum Genet; 1997 Aug; 100(2):263-5. PubMed ID: 9254861
[TBL] [Abstract][Full Text] [Related]
12. Dihydropyrimidine dehydrogenase (DPD) deficiency: identification and expression of missense mutations C29R, R886H and R235W.
Vreken P; Van Kuilenburg AB; Meinsma R; van Gennip AH
Hum Genet; 1997 Dec; 101(3):333-8. PubMed ID: 9439663
[TBL] [Abstract][Full Text] [Related]
13. Determination of dihydropyrimidine dehydrogenase (DPD) in fibroblasts of a DPD deficient pediatric patient and family members using a polyclonal antibody to human DPD.
Diasio RB; Van Kuilenburg AB; Lu Z; Zhang R; Van Lenthe H; Bakker HD; Van Gennip AH
Adv Exp Med Biol; 1994; 370():7-10. PubMed ID: 7661001
[No Abstract] [Full Text] [Related]
14. Characterization of the human dihydropyrimidine dehydrogenase gene.
Wei X; Elizondo G; Sapone A; McLeod HL; Raunio H; Fernandez-Salguero P; Gonzalez FJ
Genomics; 1998 Aug; 51(3):391-400. PubMed ID: 9721209
[TBL] [Abstract][Full Text] [Related]
15. Heterozygosity for a point mutation in an invariant splice donor site of dihydropyrimidine dehydrogenase and severe 5-fluorouracil related toxicity.
Van Kuilenburg AB; Vreken P; Beex LV; Meinsma R; Van Lenthe H; De Abreu RA; van Gennip AH
Eur J Cancer; 1997 Nov; 33(13):2258-64. PubMed ID: 9470816
[TBL] [Abstract][Full Text] [Related]
16. Lethal outcome of a patient with a complete dihydropyrimidine dehydrogenase (DPD) deficiency after administration of 5-fluorouracil: frequency of the common IVS14+1G>A mutation causing DPD deficiency.
van Kuilenburg AB; Muller EW; Haasjes J; Meinsma R; Zoetekouw L; Waterham HR; Baas F; Richel DJ; van Gennip AH
Clin Cancer Res; 2001 May; 7(5):1149-53. PubMed ID: 11350878
[TBL] [Abstract][Full Text] [Related]
17. Mutational analysis of the human dihydropyrimidine dehydrogenase gene by denaturing high-performance liquid chromatography.
Fischer J; Schwab M; Eichelbaum M; Zanger UM
Genet Test; 2003; 7(2):97-105. PubMed ID: 12885330
[TBL] [Abstract][Full Text] [Related]
18. Life-threatening toxicity in a dihydropyrimidine dehydrogenase-deficient patient after treatment with topical 5-fluorouracil.
Johnson MR; Hageboutros A; Wang K; High L; Smith JB; Diasio RB
Clin Cancer Res; 1999 Aug; 5(8):2006-11. PubMed ID: 10473079
[TBL] [Abstract][Full Text] [Related]
19. High-throughput genotyping by DHPLC of the dihydropyrimidine dehydrogenase gene implicated in (fluoro)pyrimidine catabolism.
Gross E; Seck K; Neubauer S; Mayr J; Hellebrand H; Ratanaphan A; Lutz V; Stockinger H; Kiechle M
Int J Oncol; 2003 Feb; 22(2):325-32. PubMed ID: 12527930
[TBL] [Abstract][Full Text] [Related]
20. New insights in dihydropyrimidine dehydrogenase deficiency: a pivotal role for beta-aminoisobutyric acid?
Van Kuilenburg AB; Stroomer AE; Van Lenthe H; Abeling NG; Van Gennip AH
Biochem J; 2004 Apr; 379(Pt 1):119-24. PubMed ID: 14705962
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]