Heterozygosity for a point mutation in an invariant splice donor site of dihydropyrimidine dehydrogenase and severe 5-fluorouracil related toxicity
- 1 November 1997
- journal article
- Published by Elsevier BV in European Journal of Cancer
- Vol. 33 (13), 2258-2264
- https://doi.org/10.1016/s0959-8049(97)00261-x
Abstract
No abstract availableKeywords
This publication has 25 references indexed in Scilit:
- A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiencyJournal of Inherited Metabolic Disease, 1996
- Human Polymorphism in Drug Metabolism: Mutation in the Dihydropyrimidine Dehydrogenase Gene Results in Exon Skipping and Thymine UracilureaDNA and Cell Biology, 1995
- Clinical and biochemical findings in six patients with pyrimidine degradation defectsJournal of Inherited Metabolic Disease, 1994
- 5-ethynyluracil (776C85): Inactivation of dihydropyrimidine dehydrogenase in vivoBiochemical Pharmacology, 1993
- Severe 5-fluorouracil toxicity secondary to dihydropyrimidine dehydrogenase deficiency. A potentially more common pharmacogenetic syndromeCancer, 1991
- Inhibition of fluoropyrimidine catabolism by benzyloxybenzyluracil: Possible relevance to regional chemotherapyBiochemical Pharmacology, 1991
- Enhancing effect of bromovinyldeoxyuridine on antitumor activity of 5-fluorouracil against adenocarcinoma 755 in mice: Increased therapeutic index and correlation with increased plasma 5-fluorouracil levelsBiochemical Pharmacology, 1988
- Familial deficiency of dihydropyrimidine dehydrogenase. Biochemical basis for familial pyrimidinemia and severe 5-fluorouracil-induced toxicity.JCI Insight, 1988
- Familial Pyrimidinemia and Pyrimidinuria Associated with Severe Fluorouracil ToxicityThe New England Journal of Medicine, 1985
- Elevated urine, blood and cerebrospinal fluid levels of uracil and thymine in a child with dihydrothymine dehydrogenase deficiencyClinica Chimica Acta; International Journal of Clinical Chemistry, 1984