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Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity.
Nakajima Y, Meijer J, Dobritzsch D, Ito T, Zhang C, Wang X, Watanabe Y, Tashiro K, Meinsma R, Roelofsen J, Zoetekouw L, van Kuilenburg ABP. Nakajima Y, et al. Mol Genet Metab. 2017 Dec;122(4):216-222. doi: 10.1016/j.ymgme.2017.10.003. Epub 2017 Oct 12. Mol Genet Metab. 2017. PMID: 29054612
The crystal structure of human DHP indicated that all point mutations were likely to cause rearrangements of loops shaping the active site, primarily affecting substrate binding and stability of the enzyme. The observation that the identified mutations were more prevalent …
The crystal structure of human DHP indicated that all point mutations were likely to cause rearrangements of loops shaping the active site, …
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.
There was no significant difference, in residual activity, between mutations observed in the symptomatic and those observed in the asymptomatic individuals....
There was no significant difference, in residual activity, between mutations observed in the symptomatic and those observed in …
Beta-alanine and beta-aminoisobutyric acid levels in two siblings with dihydropyrimidinase deficiency.
van Kuilenburg AB, Stroomer AE, Bosch AM, Duran M. van Kuilenburg AB, et al. Nucleosides Nucleotides Nucleic Acids. 2008 Jun;27(6):825-9. doi: 10.1080/15257770802146445. Nucleosides Nucleotides Nucleic Acids. 2008. PMID: 18600547
In two siblings with a complete DHP deficiency and a variable clinical presentation, a normal concentration of beta-alanine and strongly decreased levels of beta-aminoisobutyric acid were observed in plasma, urine and CSF. No major differences were observed for the …
In two siblings with a complete DHP deficiency and a variable clinical presentation, a normal concentration of beta-alanine and strongly dec …
Pre- and post-dialysis quantitative dosage of thymidine in urine and plasma of a MNGIE patient by using HPLC-ESI-MS/MS.
la Marca G, Malvagia S, Casetta B, Pasquini E, Pela I, Hirano M, Donati MA, Zammarchi E. la Marca G, et al. J Mass Spectrom. 2006 May;41(5):586-92. doi: 10.1002/jms.1013. J Mass Spectrom. 2006. PMID: 16498612
We developed a fast analytical method based on HPLC-ESI-MS/MS capable of identifying pyrimidine nucleotides (thymine, cytosine, uracil) and nucleosides (thymidine, citidine, uridine) in plasma and urine after direct dilution of the samples without pre-treatment. In the patient st …
We developed a fast analytical method based on HPLC-ESI-MS/MS capable of identifying pyrimidine nucleotides (thymine, cytosine, uracil) and …
Possible prediction of adverse reactions to pyrimidine chemotherapy from urinary pyrimidine levels and a case of asymptomatic adult dihydropyrimidinuria.
Hayashi K, Kidouchi K, Sumi S, Mizokami M, Orito E, Kumada K, Ueda R, Wada Y. Hayashi K, et al. Clin Cancer Res. 1996 Dec;2(12):1937-41. Clin Cancer Res. 1996. PMID: 9816152
The reference range obtained was found to be 0-59.3 micromol/g creatinine for dihydrouracil and 0-129.8 micromol/g creatinine for uracil. In addition, an asymptomatic man with suspected dihydropyrimidinase deficiency was detected on the basis of dihydropyrimidinuria …
The reference range obtained was found to be 0-59.3 micromol/g creatinine for dihydrouracil and 0-129.8 micromol/g creatinine for uracil. In …