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Items: 1 to 20 of 116

1.

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, et al.

Hum Genet. 1999 Jan;104(1):1-9. Review.

PMID:
10071185
2.

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 15;364(Pt 1):157-63.

3.

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.

PMID:
9439663
4.

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.

PMID:
9170156
5.

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.

6.

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.

7.

Pharmacogenetic and clinical aspects of dihydropyrimidine dehydrogenase deficiency.

van Kuilenburg AB, De Abreu RA, van Gennip AH.

Ann Clin Biochem. 2003 Jan;40(Pt 1):41-5. Review.

PMID:
12542909
8.

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.

PMID:
8892022
9.
10.

High prevalence of the IVS14 + 1G>A mutation in the dihydropyrimidine dehydrogenase gene of patients with severe 5-fluorouracil-associated toxicity.

Van Kuilenburg AB, Meinsma R, Zoetekouw L, Van Gennip AH.

Pharmacogenetics. 2002 Oct;12(7):555-8.

PMID:
12360106
11.

Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function.

Van Kuilenburg AB, Meinsma R, Beke E, Bobba B, Boffi P, Enns GM, Witt DR, Dobritzsch D.

Biol Chem. 2005 Apr;386(4):319-24. Erratum in: Biol Chem. 2005 Oct;386(10):1075.

PMID:
15899693
12.

Dihydropyrimidine dehydrogenase pharmacogenetics in the Taiwanese population.

Hsiao HH, Yang MY, Chang JG, Liu YC, Liu TC, Chang CS, Chen TP, Lin SF.

Cancer Chemother Pharmacol. 2004 May;53(5):445-51.

PMID:
15132136
13.

Known variant DPYD alleles do not explain DPD deficiency in cancer patients.

Collie-Duguid ES, Etienne MC, Milano G, McLeod HL.

Pharmacogenetics. 2000 Apr;10(3):217-23.

PMID:
10803677
14.

Dihydropyrimidine dehydrogenase deficiency presenting at birth.

Al-Sanna'a NA, Van Kuilenburg AB, Atrak TM, Abdul-Jabbar MA, Van Gennip AH.

J Inherit Metab Dis. 2005;28(5):793-6.

PMID:
16151913
15.

[Mutations in the dihydropyrimidine dehydrogenase gene and their role in 5-fluororuracil intolerance].

Gross E, Seck K, Kiechle M.

Zentralbl Gynakol. 2002 Dec;124(12):574-9. German.

PMID:
12822071
16.
18.

Analysis of the DPYD gene implicated in 5-fluorouracil catabolism in Chinese cancer patients.

He YF, Wei W, Zhang X, Li YH, Li S, Wang FH, Lin XB, Li ZM, Zhang DS, Huang HQ, Hu B, Jiang WQ.

J Clin Pharm Ther. 2008 Jun;33(3):307-14. doi: 10.1111/j.1365-2710.2008.00898.x.

PMID:
18452418
19.

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 1;51(3):391-400.

PMID:
9721209
20.

Dihydropyrimidine dehydrogenase deficiency. Neurological aspects.

Braakhekke JP, Renier WO, Gabreƫls FJ, De Abreu RA, Bakkeren JA, Sengers RC.

J Neurol Sci. 1987 Mar;78(1):71-7.

PMID:
3572451

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