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Items: 15

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.

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.

3.

The effect of dihydropyrimidine dehydrogenase deficiency on outcomes with fluorouracil.

Gardiner SJ, Begg EJ, Robinson BA.

Adverse Drug React Toxicol Rev. 2002;21(1-2):1-16. Review.

PMID:
12140902
4.

Dihydropyrimidine dehydrogenase and the efficacy and toxicity of 5-fluorouracil.

van Kuilenburg AB.

Eur J Cancer. 2004 May;40(7):939-50. Review.

PMID:
15093568
5.

The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.

Jensen HK.

Dan Med Bull. 2002 Nov;49(4):318-45. Review.

PMID:
12553167
6.

[Dihydropyrimidine dehydrogenase activity and its genetic aberrations].

Ogura K.

Gan To Kagaku Ryoho. 2006 Aug;33(8):1041-8. Review. Japanese.

PMID:
16912518
9.

[Dihydropyrimidine dehydrogenase deficiency].

Kouwaki M, Wada Y.

Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):490-3. Review. Japanese. No abstract available.

PMID:
9590110
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12.

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. Review. No abstract available.

PMID:
7491709
13.

Application of simple chromatographic methods for the diagnosis of defects in pyrimidine degradation.

van Gennip AH, Busch S, Elzinga L, Stroomer AE, van Cruchten A, Scholten EG, Abeling NG.

Clin Chem. 1993 Mar;39(3):380-5. Review.

14.

Interferon-gamma receptor deficiency: relationship between genotype, environment, and phenotype (Review).

Lamhamedi S, Jouanguy E, Altare F, Roesler J, Casanova JL.

Int J Mol Med. 1998 Feb;1(2):415-8. Review.

PMID:
9852244
15.

[Clinical and molecular genetic investigations on mitochondrial respiratory chain complex-I deficiency].

Wei XQ, Zhang Y, Yang YL.

Zhonghua Er Ke Za Zhi. 2009 Feb;47(2):156-8. Review. Chinese. No abstract available.

PMID:
19573469
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