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Article

Dihydropyrimidine dehydrogenase (DPD) deficiency: novel mutations in the DPD gene.

Advances in experimental medicine and biology - 1 Jan 2000

van Kuilenburg A B, Haasjes J, Meinsma R, Waterham H R, Vreken P, van Gennip A H

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PMID: 11783493
DOI: 10.1007/0-306-46843-3_48

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Dihydropyrimidine dehydrogenase (DPD) deficiency: novel mutations in the DPD gene.PMID 11783493Read ↗

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Ethnic Diversity of DPD Activity and the DPYD Gene: Review of the LiteratureSemantic proximity Read ↗

New DPYD variants causing DPD deficiency in patients treated with fluoropyrimidine.Semantic proximity Read ↗

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

Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients.Semantic proximity Read ↗

Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12.Semantic proximity Read ↗

Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene.Semantic proximity Read ↗

Analysis of the DPYD gene implicated in 5-fluorouracil catabolism in a cohort of Caucasian individuals.Semantic proximity Read ↗

Characterization of the human dihydropyrimidine dehydrogenase gene.Semantic proximity Read ↗

Genotyping of a family with a novel deleterious DPYD mutation supports the pretherapeutic screening of DPD deficiency with dihydrouracil/uracil ratio.Semantic proximity Read ↗

DPYD genotyping and 5-fluoropyrimidine toxicity: An overview of systematic reviews protocol.Semantic proximity Read ↗

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