These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
121 related articles for article (PubMed ID: 9686373)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
9. Dihydropyrimidine dehydrogenase deficiency in a Hutterite newborn. Adolph KJ; Fung E; McLeod DR; Morgan K; Snyder FF Adv Exp Med Biol; 1991; 309B():311-4. PubMed ID: 1781388 [No Abstract] [Full Text] [Related]
10. 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]
11. Rapid detection of a common dihydropyrimidine dehydrogenase mutation associated with 5-fluorouracil toxicity and congenital thymine uraciluria using fluorogenic hybridization probes. Nauck M; Gierens H; März W; Wieland H Clin Biochem; 2001 Mar; 34(2):103-5. PubMed ID: 11311218 [No Abstract] [Full Text] [Related]
12. Elevated urine, blood and cerebrospinal fluid levels of uracil and thymine in a child with dihydrothymine dehydrogenase deficiency. Bakkeren JA; De Abreu RA; Sengers RC; Gabreëls FJ; Maas JM; Renier WO Clin Chim Acta; 1984 Jul; 140(3):247-56. PubMed ID: 6467612 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
16. Screening for defects of dihydropyrimidine degradation by analysis of amino acids in urine before and after acid hydrolysis. van Gennip AH; Driedijk PC; Elzinga A; Abeling NG J Inherit Metab Dis; 1992; 15(3):413-5. PubMed ID: 1405482 [No Abstract] [Full Text] [Related]
17. 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]
18. 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]