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2. 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]
3. 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]
4. 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]
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. 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]
8. 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]
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. Urinary screening for pyrimidine metabolism disorders. Reference ranges for dihydrouracil, uracil, and dihydrouracil/uracil ratio. Sumi S; Kidouchi K; Hayashi K; Imaeda M; Asai M; Wada Y Adv Exp Med Biol; 1998; 431():191-5. PubMed ID: 9598057 [No Abstract] [Full Text] [Related]
11. [Inborn errors of pyrimidine metabolism]. Sumi S; Ito T; Ueta A Ryoikibetsu Shokogun Shirizu; 2000; (29 Pt 4):412-4. PubMed ID: 11031984 [No Abstract] [Full Text] [Related]
12. A new case of dihydropyrimidine dehydrogenase deficiency. Brockstedt M; Jakobs C; Smit LM; van Gennip AH; Berger R J Inherit Metab Dis; 1990; 13(1):121-4. PubMed ID: 2109146 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
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. Diagnostic analysis, clinical importance and molecular basis of dihydropyrimidine dehydrogenase deficiency. Gonzalez FJ; Fernandez-Salguero P Trends Pharmacol Sci; 1995 Oct; 16(10):325-7. PubMed ID: 7491709 [No Abstract] [Full Text] [Related]
17. 1H NMR spectroscopy of body fluids in patients with inborn errors of purine and pyrimidine metabolism. Wevers RA; Engelke U; Rotteveel JJ; Heerschap A; De Jong JG; Abeling NG; van Gennip AH; de Abreu RA J Inherit Metab Dis; 1997 Jul; 20(3):345-50. PubMed ID: 9266352 [No Abstract] [Full Text] [Related]
18. 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 J Inherit Metab Dis; 1999 Apr; 22(2):191-2. PubMed ID: 10234617 [No Abstract] [Full Text] [Related]
19. 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]
20. Clinical and biochemical findings in six patients with pyrimidine degradation defects. van Gennip AH; Abeling NG; Stroomer AE; van Lenthe H; Bakker HD J Inherit Metab Dis; 1994; 17(1):130-2. PubMed ID: 8051923 [No Abstract] [Full Text] [Related] [Next] [New Search]