Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency.
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- Authors
- Van Kuilenburg, A B; Vreken, P; Abeling, N G; Bakker, H D; Meinsma, R; Van Lenthe, H; De Abreu, R A; Smeitink, J A; Kayserili, H; Apak, M Y; Christensen, E; Holopainen, I; Pulkki, K; Riva, D; Botteon, G; Holme, E; Tulinius, M; Kleijer, W J; Beemer, F A; Duran, M; Niezen-Koning, K E; Smit, G P; Jakobs, C; Smit, L M; Van Gennip, A H
- Year
- 1999
- Journal
- Human genetics
- PMID
- 10071185
- DOI
- 10.1007/pl00008711
Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disease characterised by thymine-uraciluria in homozygous deficient patients and has been associated with a variable clinical phenotype. In order to understand the genetic and phenotypic basis for DPD deficiency, we have reviewed 17 families presenting 22 patients with complete deficiency of DPD. In this group of patients, 7 different mutations have been identified, including 2 deletions [295-298delTCAT, 1897delC], 1 splice-site mutation [IVS14+1G>A)] and 4 missense mutations (85T>C, 703C>T, 2658G>A, 2983G>T). Analysis of the prevalence of the various mutations among DPD patients has shown that the G-->A point mutation in the invariant splice donor site is by far the most common (52%), whereas the other six mutations are less frequently observed. A large phenotypic variability has been observed, with convulsive disorders, motor retardation and mental retardation being the most abundant manifestations. A clear correlation between the genotype and phenotype has not been established. An altered beta-alanine, uracil and thymine homeostasis might underlie the various clinical abnormalities encountered in patients with DPD deficiency.
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| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| Disease or non-disease - about the identification of metabolic conditions that require no treatment. | Sass JO et al. | β | 2026 | β |
| Functional studies of human variants in C. elegans link iron metabolism to DPD deficiency and 5-FU sensitivity. | Li X et al. | β | 2026 | β |
| Expansion of a bacterial operon during cancer treatment ameliorates fluoropyrimidine toxicity. | Trepka KR et al. | β | 2025 | β |
| Genotype-guided pharmacotherapy: the challenges of integrating pharmacogenomic testing into routine healthcare with a focus on experiences at a single site. | Cavallari LH et al. | β | 2025 | β |
| Plasma Metabolic Outliers Identified in Estonian Human Knockouts. | Yu K et al. | β | 2025 | β |
| Some unanswered questions about the pyrimidine catabolic pathway: The human macrophage perspective. | Millet A | β | 2025 | β |
| The diagnosis and treatment of disorders of nucleic acid/nucleotide metabolism associated with epilepsy. | Shi Y et al. | β | 2025 | β |
| A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report. | Malekkou A et al. | β | 2024 | β |
| Juvenile Parkinsonism Associated With Dihydropyrimidinase Deficiency. | Li J et al. | β | 2024 | β |
| Zebrafish as a model for study of disorders in pyrimidine nucleotide metabolism. | Wang L | β | 2024 | β |
| A Rare Genetic-Metabolic Cause of Epileptic Spasms: Dihydropyrimidine Dehydrogenase Deficiency. | Gowda VK et al. | β | 2023 | β |
| BEDwARS: a robust Bayesian approach to bulk gene expression deconvolution with noisy reference signatures. | Ghaffari S et al. | β | 2023 | β |
| Current diagnostic and clinical issues of screening for dihydropyrimidine dehydrogenase deficiency. | Etienne-Grimaldi MC et al. | β | 2023 | β |
| <i>DPYD</i> Exon 4 Deletion Associated with Fluoropyrimidine Toxicity and Importance of Copy Number Variation. | Wigle TJ et al. | β | 2023 | β |
| Improved diagnostics of purine and pyrimidine metabolism disorders using LC-MS/MS and its clinical application. | Cremonesi A et al. | β | 2023 | β |
| Precision Management of a Patient With Dihydropyrimidine Dehydrogenase Deficiency and Liver-Predominant Metastatic Rectal Cancer Using Hepatic Arterial Floxuridine. | Lumish M et al. | β | 2023 | β |
| Ten-year experience with pharmacogenetic testing for <i>DPYD</i> in a national cancer center in Italy: Lessons learned on the path to implementation. | Bignucolo A et al. | β | 2023 | β |
| Identification of fungal dihydrouracil-oxidase genes by expression in Saccharomyces cerevisiae. | Bouwknegt J et al. | β | 2022 | β |
| Implementing Pharmacogenetic Testing in Gastrointestinal Cancers (IMPACT-GI): Study Protocol for a Pragmatic Implementation Trial for Establishing <i>DPYD</i> and <i>UGT1A1</i> Screening to Guide Chemotherapy Dosing. | Varughese LA et al. | β | 2022 | β |
| Inborn errors of purine and pyrimidine metabolism: A guide to diagnosis. | Jurecka A et al. | β | 2022 | β |
| Modern developments in germline pharmacogenomics for oncology prescribing. | Reizine NM et al. | β | 2022 | β |
| Testing for Dihydropyrimidine Dehydrogenase Deficiency to Individualize 5-Fluorouracil Therapy. | Diasio RB et al. | β | 2022 | β |
| An Evaluation of the Diagnostic Accuracy of a Panel of Variants in <i>DPYD</i> and a Single Variant in ENOSF1 for Predicting Common Capecitabine Related Toxicities. | Palles C et al. | β | 2021 | β |
| <i>DPYD</i> c.1905β+β1G>A Promotes Fluoropyrimidine-Induced Anemia, a Prognostic Factor in Disease-Free Survival, in Colorectal Cancer. | Deligonul A et al. | β | 2021 | β |
| Occurrence of Inborn Errors of Metabolism in Newborns, Diagnosis and Prophylaxis. | Bharadwaj A et al. | β | 2021 | β |
| The dihydropyrimidine dehydrogenase gene contributes to heritable differences in sleep in mice. | Keenan BT et al. | β | 2021 | β |
| Development of a Pharmacogenetic Lab-on-Chip Assay Based on the In-Check Technology to Screen for Genetic Variations Associated to Adverse Drug Reactions to Common Chemotherapeutic Agents. | Iemmolo R et al. | β | 2020 | β |
| Dihydropyrimidine Dehydrogenase Deficiency: To Screen or Not to Screen? | Vogel WH et al. | β | 2020 | β |
| Dihydropyrimidine Dehydrogenase Testing prior to Treatment with 5-Fluorouracil, Capecitabine, and Tegafur: A Consensus Paper. | WΓΆrmann B et al. | β | 2020 | β |
| Germline and Somatic Pharmacogenomics to Refine Rectal Cancer Patients Selection for Neo-Adjuvant Chemoradiotherapy. | De Mattia E et al. | β | 2020 | β |
| Irinotecan toxicity during treatment of metastatic colorectal cancer: focus on pharmacogenomics and personalized medicine. | PaulΓk A et al. | β | 2020 | β |
| Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1. | van Kuilenburg ABP et al. | β | 2019 | β |
| Separating host and microbiome contributions to drug pharmacokinetics and toxicity. | Zimmermann M et al. | β | 2019 | β |
| Capecitabine-based treatment of a patient with a novel DPYD genotype and complete dihydropyrimidine dehydrogenase deficiency. | Henricks LM et al. | β | 2018 | β |
| 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. | van Kuilenburg ABP et al. | β | 2018 | β |
| Inborn Errors of Metabolism with Cognitive Impairment: Metabolism Defects of Phenylalanine, Homocysteine and Methionine, Purine and Pyrimidine, and Creatine. | Sklirou E et al. | β | 2018 | β |
| Capecitabine-Induced Severe Toxicity Secondary to DPD Deficiency and Successful Treatment with Low Dose 5-Fluorouracil. | Kodali S et al. | β | 2017 | β |
| Characterization of a rare nonpathogenic sequence variant (c.1905C>T) of the dihydropyrimidine dehydrogenase gene (DPYD). | Palmirotta R et al. | β | 2017 | β |
| Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype? | Fleger M et al. | β | 2017 | β |
| Hydrogel microarray for detection of polymorphisms in the UGT1A1, DPYD, GSTP1 and ABCB1 genes. | Heydarov R et al. | β | 2017 | β |
| Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells. | Middelkamp S et al. | β | 2017 | β |
| Prevention of 5-fluorouracil-induced early severe toxicity by pre-therapeutic dihydropyrimidine dehydrogenase deficiency screening: Assessment of a multiparametric approach. | Boisdron-Celle M et al. | β | 2017 | β |
| Dihydro pyrimidine dehydrogenase deficiency in patients treated with capecitabine based regimens: a tertiary care centre experience. | Sahu A et al. | β | 2016 | β |
| Evaluation of an oral uracil loading test to identify DPD-deficient patients using a limited sampling strategy. | van Staveren MC et al. | β | 2016 | β |
| Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene. | Kuilenburg ABPV et al. | β | 2016 | β |
| Association of new deletion/duplication region at chromosome 1p21 with intellectual disability, severe speech deficit and autism spectrum disorder-like behavior: an all-in approach to solving the <i>DPYD</i> enigma. | BreΔeviΔ L et al. | β | 2015 | β |
| Community structure analysis of transcriptional networks reveals distinct molecular pathways for early- and late-onset temporal lobe epilepsy with childhood febrile seizures. | Moreira-Filho CA et al. | β | 2015 | β |
| Genetic variation in dihydropyrimidine dehydrogenase (DPYD) gene in a healthy adult Indian population. | Iyer SN et al. | β | 2015 | β |
| Near fatal 5-FU gut toxicity post surgery--remarkable effect of high-dose sucralfate. | Toh JW et al. | β | 2015 | β |
| Pharmacogenomics of fluorouracil -based chemotherapy toxicity. | Matsusaka S et al. | β | 2015 | β |
| Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. | Zhu X et al. | β | 2015 | β |
| Consortium analysis of gene and gene-folate interactions in purine and pyrimidine metabolism pathways with ovarian carcinoma risk. | Kelemen LE et al. | β | 2014 | β |
| Dihydropyrimidine dehydrogenase deficiency in two malaysian siblings with abnormal MRI findings. | Chen BC et al. | β | 2014 | β |
| Genetic markers of toxicity from capecitabine and other fluorouracil-based regimens: investigation in the QUASAR2 study, systematic review, and meta-analysis. | Rosmarin D et al. | β | 2014 | β |
| Higher frequency of genetic variants conferring increased risk for ADRs for commonly used drugs treating cancer, AIDS and tuberculosis in persons of African descent. | Aminkeng F et al. | β | 2014 | β |
| Inborn errors of pyrimidine metabolism: clinical update and therapy. | Balasubramaniam S et al. | β | 2014 | β |
| Pharmacogenetics research on chemotherapy resistance in colorectal cancer over the last 20 years. | Panczyk M | β | 2014 | β |
| Evaluation of clinical value of single nucleotide polymorphisms of dihydropyrimidine dehydrogenase gene to predict 5-fluorouracil toxicity in 60 colorectal cancer patients in China. | Zhang X et al. | β | 2013 | β |
| Evaluation of predictive tests for screening for dihydropyrimidine dehydrogenase deficiency. | van Staveren MC et al. | β | 2013 | β |
| Genetic polymorphisms of enzymes related to oral tegafur/uracil therapeutic efficacy in patients with hepatocellular carcinoma. | Fushiya N et al. | β | 2013 | β |
| Personalizing colon cancer therapeutics: targeting old and new mechanisms of action. | Kline CL et al. | β | 2013 | β |
| Polymorphism of TS 3'-UTR predicts survival of Chinese advanced gastric cancer patients receiving first-line capecitabine plus paclitaxel. | Gao J et al. | β | 2013 | β |
| Screening of dihydropyrimidine dehydrogenase genetic variants by direct sequencing in different ethnic groups. | Shin JG et al. | β | 2013 | β |
| The expanding genomic landscape of autism: discovering the 'forest' beyond the 'trees' | Hu VW | β | 2013 | β |
| De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia. | Xu B et al. | β | 2012 | β |
| Dual diagnosis of dihydropyrimidine dehydrogenase deficiency and GMβ gangliosidosis. | Ong MT et al. | β | 2012 | β |
| Evaluation of 5-fluorouracil pharmacokinetics in cancer patients with a c.1905+1G>A mutation in DPYD by means of a Bayesian limited sampling strategy. | van Kuilenburg AB et al. | β | 2012 | β |
| Genetic polymorphisms affecting drug metabolism: recent advances and clinical aspects. | Daly AK | β | 2012 | β |
| Genotype frequencies of drug-metabolizing enzymes responsible for purine and pyrimidine antagonists in a healthy Asian-Indian population. | Iyer SN et al. | β | 2012 | β |
| Germline pharmacogenomics in oncology: decoding the patient for targeting therapy. | O'Donnell PH et al. | β | 2012 | β |
| High-resolution melting analysis of the common c.1905+1G>A mutation causing dihydropyrimidine dehydrogenase deficiency and lethal 5-fluorouracil toxicity. | BorrΓ s E et al. | β | 2012 | β |
| Pharmacogenetic markers of toxicity for chemotherapy in colorectal cancer patients. | Cortejoso L et al. | β | 2012 | β |
| Pharmacogenomic applications in oncology. | Walko CM et al. | β | 2012 | β |
| Predicting 5-fluorouracil toxicity in colorectal cancer patients from peripheral blood cell telomere length: a multivariate analysis. | Garg MB et al. | β | 2012 | β |
| Γ-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients. | van Kuilenburg AB et al. | β | 2012 | β |
| 5-Fluorouracil pharmacogenomics: still rocking after all these years? | Scartozzi M et al. | β | 2011 | β |
| A mild phenotype of dihydropyrimidine dehydrogenase deficiency and developmental retardation associated with a missense mutation affecting cofactor binding. | Weidensee S et al. | β | 2011 | β |
| Autism in monogenic disorders. | Kotulska K et al. | β | 2011 | β |
| Clinically relevant genetic variations in drug metabolizing enzymes. | Pinto N et al. | β | 2011 | β |
| Dihydropyrimidine dehydrogenase gene as a major predictor of severe 5-fluorouracil toxicity. | Amstutz U et al. | β | 2011 | β |
| Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder. | Carter MT et al. | β | 2011 | β |
| Isolated neonatal seizures: when to suspect inborn errors of metabolism. | Ficicioglu C et al. | β | 2011 | β |
| Pharmacogenomic contribution to drug response. | Watson RG et al. | β | 2011 | β |
| PharmGKB summary: fluoropyrimidine pathways. | Thorn CF et al. | β | 2011 | β |
| Severe fluoropyrimidine-related toxicity: clinical implications of DPYD analysis and UH2/U ratio evaluation. | Giorgio E et al. | β | 2011 | β |
| Absence of large intragenic rearrangements in the DPYD gene in a large cohort of colorectal cancer patients treated with 5-FU-based chemotherapy. | ParΓ© L et al. | β | 2010 | β |
| Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients. | van Kuilenburg AB et al. | β | 2010 | β |
| Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD. | van Kuilenburg AB et al. | β | 2010 | β |
| Dihydropyrimidine dehydrogenase polymorphisms and fluoropyrimidine toxicity: ready for routine clinical application within personalized medicine? | Del Re M et al. | β | 2010 | β |
| Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. | Noor A et al. | β | 2010 | β |
| Investigation of IVS14 + 1G > A polymorphism of DPYD gene in a group of Bosnian patients treated with 5-Fluorouracil and capecitabine. | CeriΔ T et al. | β | 2010 | β |
| Lethal outcome of 5-fluorouracil infusion in a patient with a total DPD deficiency and a double DPYD and UTG1A1 gene mutation. | Mounier-Boutoille H et al. | β | 2010 | β |
| Routine dihydropyrimidine dehydrogenase testing for anticipating 5-fluorouracil-related severe toxicities: hype or hope? | Ciccolini J et al. | β | 2010 | β |
| [Severe toxicity following capecitabine administration because of dihydropyrimidine deshydrogenase (DPD) deficiency]. | Coursier S et al. | β | 2010 | β |
| The role of Sp1 and Sp3 in normal and cancer cell biology. | Li L et al. | β | 2010 | β |
| Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3). | van Kuilenburg AB et al. | β | 2009 | β |
| Gene expression profiling differentiates autism case-controls and phenotypic variants of autism spectrum disorders: evidence for circadian rhythm dysfunction in severe autism. | Hu VW et al. | β | 2009 | β |
| Inborn errors of purine and pyrimidine metabolism. | Jurecka A | β | 2009 | β |
| Pharmacogenetics of fluoropyrimidine and cisplatin. A future application to gastric cancer treatment. | Shimoyama S | β | 2009 | β |
| The dihydrouracil/uracil ratio in plasma, clinical and genetic analysis for screening of dihydropyrimidine dehydrogenase deficiency in colorectal cancer patients treated with 5-fluorouracil. | Ben Fredj R et al. | β | 2009 | β |
| Toxicity and efficacy of 5-fluorouracil and capecitabine in a patient with TYMS gene polymorphism: A challenge or a dilemma? | Shahrokni A et al. | β | 2009 | β |
| Analysis of the DPYD gene implicated in 5-fluorouracil catabolism in Chinese cancer patients. | He YF et al. | β | 2008 | β |
| Genetic variation in the one-carbon transfer pathway and ovarian cancer risk. | Kelemen LE et al. | β | 2008 | β |
| Identification of two novel mutations C79X and R235Q in the dihydropyrimidine dehydrogenase gene in a patient presenting with hematuria. | van Kuilenburg AB et al. | β | 2008 | β |
| Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment. | BrockmΓΆller J et al. | β | 2008 | β |
| Pharmacokinetics of 5-fluorouracil in patients heterozygous for the IVS14+1G > A mutation in the dihydropyrimidine dehydrogenase gene. | van Kuilenburg AB et al. | β | 2008 | β |
| The crystal structure of beta-alanine synthase from Drosophila melanogaster reveals a homooctameric helical turn-like assembly. | Lundgren S et al. | β | 2008 | β |
| Colorectal cancer therapeutics and the challenges of applied pharmacogenomics. | Kruzelock RP et al. | β | 2007 | β |
| DPYD*5 gene mutation contributes to the reduced DPYD enzyme activity and chemotherapeutic toxicity of 5-FU: results from genotyping study on 75 gastric carcinoma and colon carcinoma patients. | Zhang H et al. | β | 2007 | β |
| FRA1E common fragile site breaks map within a 370kilobase pair region and disrupt the dihydropyrimidine dehydrogenase gene (DPYD). | Hormozian F et al. | β | 2007 | β |
| Mutational spectrum of dihydropyrimidine dehydrogenase gene (DPYD) in the Tunisian population. | Ben Fredj R et al. | β | 2007 | β |
| Pharmacogenetics and diseases of the colon. | Hisamuddin IM et al. | β | 2007 | β |
| [Pharmacogenetics of anti-cancer drugs]. | Gamelin E et al. | β | 2007 | β |
| [Pro or con the phenotyping/genotyping of patients treated by 5-Fluorouracil to prevent adverse drug reactions?]. | Coriat R et al. | β | 2007 | β |
| Rapid detection of the DPYD IVS14+1G>A mutation for screening patients to prevent fluorouracil-related toxicity. | Bosch TM et al. | β | 2007 | β |
| Regulation of human dihydropyrimidine dehydrogenase: implications in the pharmacogenetics of 5-FU-based chemotherapy. | Zhang X et al. | β | 2007 | β |
| Should DPD analysis be required prior to prescribing fluoropyrimidines? | Yen JL et al. | β | 2007 | β |
| Suppression of DPYD expression in RKO cells via DNA methylation in the regulatory region of the DPYD promoter: a potentially important epigenetic mechanism regulating DPYD expression. | Zhang X et al. | β | 2007 | β |
| Thymidylate synthase (TYMS) and dihydropyrimidine dehydrogenase (DPYD) polymorphisms in the Korean population for prediction of 5-fluorouracil-associated toxicity. | Cho HJ et al. | β | 2007 | β |
| Analysis of pyrimidine catabolism in Drosophila melanogaster using epistatic interactions with mutations of pyrimidine biosynthesis and beta-alanine metabolism. | Rawls JM | β | 2006 | β |
| A neonate with recurrent vomiting and generalized hypotonia diagnosed with a deficiency of dihydropyrimidine dehydrogenase. | Brussel W et al. | β | 2006 | β |
| Clinical pharmacokinetics of oxaliplatin and 5-fluorouracil administered in combination with leucovorin in Korean patients with advanced colorectal cancer. | Cho HK et al. | β | 2006 | β |
| How may anticancer chemotherapy with fluorouracil be individualised? | Ploylearmsaeng SA et al. | β | 2006 | β |
| Pharmacogenetics, drug-metabolizing enzymes, and clinical practice. | Gardiner SJ et al. | β | 2006 | β |
| Profiling dihydropyrimidine dehydrogenase deficiency in patients with cancer undergoing 5-fluorouracil/capecitabine therapy. | Mercier C et al. | β | 2006 | β |
| The impact of genomics and proteomics in the clinic: functional genetic polymorphisms and their value in response and toxicity prediction in solid tumours. | Stoehlmacher J | β | 2006 | β |
| The role of Sp1 and Sp3 in the constitutive DPYD gene expression. | Zhang X et al. | β | 2006 | β |
| TPMT, UGT1A1 and DPYD: genotyping to ensure safer cancer therapy? | Maitland ML et al. | β | 2006 | β |
| Analysis of the DPYD gene implicated in 5-fluorouracil catabolism in a cohort of Caucasian individuals. | Seck K et al. | β | 2005 | β |
| Dihydropyrimidine dehydrogenase deficiency presenting at birth. | Al-Sanna'a NA et al. | β | 2005 | β |
| Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function. | Van Kuilenburg AB et al. | β | 2005 | β |
| Methylation of the DPYD promoter: an alternative mechanism for dihydropyrimidine dehydrogenase deficiency in cancer patients. | Ezzeldin HH et al. | β | 2005 | β |
| Pharmacogenetics in gastrointestinal tumors. | StΓΆhlmacher J | β | 2005 | β |
| Predicting drug response and toxicity based on gene polymorphisms. | Robert J et al. | β | 2005 | β |
| Sequence analysis of the 5'-flanking regions of human dihydropyrimidine dehydrogenase gene: identification of a new polymorphism related with effects of 5-fluorouracil. | Hasegawa T et al. | β | 2005 | β |
| TYMS and DPYD polymorphisms in a Turkish population. | SΓΌzen HS et al. | β | 2005 | β |
| beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. | van Kuilenburg AB et al. | β | 2004 | β |
| Dihydropyrimidine dehydrogenase and the efficacy and toxicity of 5-fluorouracil. | van Kuilenburg AB | β | 2004 | β |
| Dihydropyrimidine dehydrogenase deficiency, a pharmacogenetic syndrome associated with potentially life-threatening toxicity following 5-fluorouracil administration. | Ezzeldin H et al. | β | 2004 | β |
| Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency. | Enns GM et al. | β | 2004 | β |
| Lethal toxicity after 5-fluorouracil chemotherapy and its possible relationship to dihydropyrimidine dehydrogenase deficiency: a case report and review of the literature. | DΓaz R et al. | β | 2004 | β |
| Mutations in exon 14 of dihydropyrimidine dehydrogenase and 5-Fluorouracil toxicity in Portuguese colorectal cancer patients. | Salgueiro N et al. | β | 2004 | β |
| New insights in dihydropyrimidine dehydrogenase deficiency: a pivotal role for beta-aminoisobutyric acid? | Van Kuilenburg AB et al. | β | 2004 | β |
| Primer on medical genomics. Part XII: Pharmacogenomics--general principles with cancer as a model. | Goetz MP et al. | β | 2004 | β |
| Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation. | Fiumara A et al. | β | 2003 | β |
| Implications of genetic testing in the management of colorectal cancer. | Stoehlmacher J et al. | β | 2003 | β |
| Sensitive method for the quantification of urinary pyrimidine metabolites in healthy adults by gas chromatography-tandem mass spectrometry. | Hofmann U et al. | β | 2003 | β |
| A case of neurotoxicity following 5-fluorouracil-based chemotherapy. | Ki SS et al. | β | 2002 | β |
| Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography-mass spectrometry. | Kuhara T | β | 2002 | β |
| High prevalence of the IVS14 + 1G>A mutation in the dihydropyrimidine dehydrogenase gene of patients with severe 5-fluorouracil-associated toxicity. | Van Kuilenburg AB et al. | β | 2002 | β |
| Increased risk of grade IV neutropenia after administration of 5-fluorouracil due to a dihydropyrimidine dehydrogenase deficiency: high prevalence of the IVS14+1g>a mutation. | Van Kuilenburg AB et al. | β | 2002 | β |
| Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure. | van Kuilenburg AB et al. | β | 2002 | β |
| Porous graphitic carbon shows promise for the rapid screening partial DPD deficiency in lymphocyte dihydropyrimidine dehydrogenase in Chinese, Indian and Malay in Singapore by using semi-automated HPLC-radioassay. | Liem LK et al. | β | 2002 | β |
| The effect of dihydropyrimidine dehydrogenase deficiency on outcomes with fluorouracil. | Gardiner SJ et al. | β | 2002 | β |
| The role of extreme phenotype selection studies in the identification of clinically relevant genotypes in cancer research. | Perez-Gracia JL et al. | β | 2002 | β |
| 3-Ureidopropionate contributes to the neuropathology of 3-ureidopropionase deficiency and severe propionic aciduria: a hypothesis. | KΓΆlker S et al. | β | 2001 | β |
| beta-Ureidopropionase deficiency: a novel inborn error of metabolism discovered using NMR spectroscopy on urine. | Moolenaar SH et al. | β | 2001 | β |
| Crystal structure of dihydropyrimidine dehydrogenase, a major determinant of the pharmacokinetics of the anti-cancer drug 5-fluorouracil. | Dobritzsch D et al. | β | 2001 | β |
| Detection of beta-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level. | Van Kuilenburg AB et al. | β | 2001 | β |
| Germline mutation of dihydropyrimidine dehydrogenese gene among a Japanese population in relation to toxicity to 5-Fluorouracil. | Yamaguchi K et al. | β | 2001 | β |
| Importance of dihydropyrimidine dehydrogenase (DPD) deficiency in patients exhibiting toxicity following treatment with 5-fluorouracil. | Johnson MR et al. | β | 2001 | β |
| Polymorphisms of metabolizing enzymes and transporter proteins involved in the clearance of anticancer agents. | Sekine I et al. | β | 2001 | β |
| Rapid detection of a common dihydropyrimidine dehydrogenase mutation associated with 5-fluorouracil toxicity and congenital thymine uraciluria using fluorogenic hybridization probes. | Nauck M et al. | β | 2001 | β |
| Safe administration of irinotecan, oxaliplatin and raltitrexed in a DPD-deficient patient with metastatic colon cancer. | Volk J et al. | β | 2001 | β |
| The clinical pharmacology of the oral fluoropyrimidines. | Takimoto CH | β | 2001 | β |
| Cloning and initial characterization of the human DPYD gene promoter. | Collie-Duguid ES et al. | β | 2000 | β |
| Confirmation of the enzyme defect in the first case of beta-ureidopropionase deficiency. Beta-alanine deficiency. | van Kuilenburg AB et al. | β | 2000 | β |
| Defects of pyrimidine degradation: clinical, molecular and diagnostic aspects. | van Gennip AH et al. | β | 2000 | β |
| Dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil associated toxicity. | van Kuilenburg AB et al. | β | 2000 | β |
| Known variant DPYD alleles do not explain DPD deficiency in cancer patients. | Collie-Duguid ES et al. | β | 2000 | β |
| Leukaemic expression of anaplastic large cell lymphoma with 46,XX,ins(2;5)(p23;q15q35) in a child with dihydropyrimidine dehydrogenase deficiency. | van den Berg H et al. | β | 2000 | β |
| A radiochemical assay for beta-ureidopropionase using radiolabeled N-carbamyl-beta-alanine obtained via hydrolysis of [2-(14)C]5, 6-dihydrouracil. | Van Kuilenburg AB et al. | β | 1999 | β |
| cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding beta-ureidopropionase. | Vreken P et al. | β | 1999 | β |
| Radiochemical assay for determination of dihydropyrimidinase activity using reversed-phase high-performance liquid chromatography. | Van Kuilenburg AB et al. | β | 1999 | β |