135 related articles for article (PubMed ID: 3572451)
1. Dihydropyrimidine dehydrogenase deficiency. Neurological aspects.
Braakhekke JP; Renier WO; Gabreëls FJ; De Abreu RA; Bakkeren JA; Sengers RC
J Neurol Sci; 1987 Mar; 78(1):71-7. PubMed ID: 3572451
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Clinical variability in three Danish patients with dihydropyrimidine dehydrogenase deficiency all homozygous for the same mutation.
Christensen E; Cezanne I; Kjaergaard S; Hørlyk H; Faurholt Pedersen V; Vreken P; van Kuilenburg AB; Van Gennip AH
J Inherit Metab Dis; 1998 Jun; 21(3):272-5. PubMed ID: 9686373
[No Abstract] [Full Text] [Related]
4. [Dihydropyrimidine dehydrogenase deficiency].
Kouwaki M; Wada Y
Ryoikibetsu Shokogun Shirizu; 1998; (18 Pt 1):490-3. PubMed ID: 9590110
[No Abstract] [Full Text] [Related]
5. 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]
6. 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]
7. 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
Hum Genet; 1999 Jan; 104(1):1-9. PubMed ID: 10071185
[TBL] [Abstract][Full Text] [Related]
8. Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism.
Berger R; Stoker-de Vries SA; Wadman SK; Duran M; Beemer FA; de Bree PK; Weits-Binnerts JJ; Penders TJ; van der Woude JK
Clin Chim Acta; 1984 Aug; 141(2-3):227-34. PubMed ID: 6488556
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Pitfalls in the diagnosis of patients with a partial dihydropyrimidine dehydrogenase deficiency.
Van Kuilenburg AB; Van Lenthe H; Tromp A; Veltman PC; Van Gennip AH
Clin Chem; 2000 Jan; 46(1):9-17. PubMed ID: 10620566
[TBL] [Abstract][Full Text] [Related]
11. Comparative study of thymine and uracil metabolism in healthy persons and in a patient with dihydropyrimidine dehydrogenase deficiency.
van Gennip AH; Abeling NG; Elzinga-Zoetekouw L; Scholten LG; van Cruchten A; Bakker HD
Adv Exp Med Biol; 1989; 253A():111-8. PubMed ID: 2624178
[No Abstract] [Full Text] [Related]
12. 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]
13. Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism.
Wadman SK; Berger R; Duran M; de Bree PK; Stoker-de Vries SA; Beemer FA; Weits-Binnerts JJ; Penders TJ; van der Woude JK
J Inherit Metab Dis; 1985; 8 Suppl 2():113-4. PubMed ID: 3930854
[No Abstract] [Full Text] [Related]
14. 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]
15. A screening method for dihydropyrimidine dehydrogenase deficiency with colorimetric detection of urinary uracil.
Okajima K; Yamamoto T; Suchi M; Wada Y
Adv Exp Med Biol; 1989; 253A():119-22. PubMed ID: 2624179
[TBL] [Abstract][Full Text] [Related]
16. Genotyping of a family with a novel deleterious DPYD mutation supports the pretherapeutic screening of DPD deficiency with dihydrouracil/uracil ratio.
Thomas F; Hennebelle I; Delmas C; Lochon I; Dhelens C; Garnier Tixidre C; Bonadona A; Penel N; Goncalves A; Delord JP; Toulas C; Chatelut E
Clin Pharmacol Ther; 2016 Feb; 99(2):235-42. PubMed ID: 26265035
[TBL] [Abstract][Full Text] [Related]
17. Combined deficiencies of NADPH- and NADH-dependent dihydropyrimidine dehydrogenases, a new finding in a family with thymine-uraciluria.
van Gennip AH; van Lenthe H; Abeling NG; Bakker HD; van Kuilenburg AB
J Inherit Metab Dis; 1995; 18(2):185-8. PubMed ID: 7564242
[No Abstract] [Full Text] [Related]
18. Dihydrothymine dehydrogenase deficiency in a family, leading to elevated levels of uracil and thymine.
De Abreu RA; Bakkeren JA; Braakhekke J; Gabreels FJ; Maas JM; Sengers RC
Adv Exp Med Biol; 1986; 195 Pt A():77-80. PubMed ID: 3728188
[No Abstract] [Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]