Andre B P van Kuilenburg

Summary

Affiliation: Academic Medical Center
Country: The Netherlands

Publications

  1. doi Evaluation of 5-fluorouracil pharmacokinetic models and therapeutic drug monitoring in cancer patients
    André Bp van Kuilenburg
    Academic Medical Center, University of Amsterdam, Emma Children s Hospital and Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, F0 220, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Pharmacogenomics 14:799-811. 2013
  2. doi ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients
    Andre B P van Kuilenburg
    Academic Medical Center, Emma Children s Hospital, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, 1105 AZ Amsterdam, The Netherlands
    Biochim Biophys Acta 1822:1096-108. 2012
  3. ncbi Determination of thymidine phosphorylase activity in human blood cells and fibroblasts by a nonradiochemical assay using reversed-phase high-performance liquid chromatography
    A B P van Kuilenburg
    Academic Medical Center, Emma Children s Hospital and Department of Clinical Chemistry, University of Amsterdam, Amsterdam, The Netherlands
    Nucleosides Nucleotides Nucleic Acids 25:1261-4. 2006
  4. ncbi Determination of 5-fluorouracil in plasma with HPLC-tandem mass spectrometry
    A B P van Kuilenburg
    Academic Medical Center, University of Amsterdam, Emma Children s Hospital and Department of Clinical Chemistry, Amsterdam, The Netherlands
    Nucleosides Nucleotides Nucleic Acids 25:1257-60. 2006
  5. ncbi Analysis of pyrimidine synthesis de novo intermediates in urine during crisis of a patient with ornithine transcarbamylase deficiency
    A B P van Kuilenburg
    Academic Medical Center, University of Amsterdam, Emma Children s Hospital, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands
    Nucleosides Nucleotides Nucleic Acids 25:1251-5. 2006
  6. ncbi Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD
    A B P van Kuilenburg
    Academic Medical Center, Amsterdam, The Netherlands
    Nucleosides Nucleotides Nucleic Acids 29:509-14. 2010
  7. ncbi A pivotal role for beta-aminoisobutyric acid and oxidative stress in dihydropyrimidine dehydrogenase deficiency?
    A B P van Kuilenburg
    Academic Medical Center, University of Amsterdam, Emma Children s Hospital and Department of Clinical Chemistry, Amsterdam, The Netherlands
    Nucleosides Nucleotides Nucleic Acids 25:1103-6. 2006
  8. ncbi Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency
    A B P van Kuilenburg
    Department of Clinical Chemistry, Academic Medical Center, Emma Children s Hospital, Amsterdam, The Netherlands
    Nucleosides Nucleotides Nucleic Acids 25:1093-8. 2006
  9. ncbi Screening for dihydropyrimidine dehydrogenase deficiency: to do or not to do, that's the question
    Andre B P van Kuilenburg
    Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, Emma Children s Hospital, Amsterdam, The Netherlands
    Cancer Invest 24:215-7. 2006
  10. ncbi Activity of pyrimidine degradation enzymes in normal tissues
    A B P van Kuilenburg
    Academic Medical Center, University of Amsterdam, Emma Children s Hospital and Departments of Clinical Chemistry, Amsterdam, The Netherlands
    Nucleosides Nucleotides Nucleic Acids 25:1211-4. 2006

Detail Information

Publications62

  1. doi Evaluation of 5-fluorouracil pharmacokinetic models and therapeutic drug monitoring in cancer patients
    André Bp van Kuilenburg
    Academic Medical Center, University of Amsterdam, Emma Children s Hospital and Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, F0 220, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Pharmacogenomics 14:799-811. 2013
    ..These Michaelis-Menten models also allow the use of a limited sampling strategy and offer the opportunity to predict a priori the 5-FU plasma concentrations in patients receiving adapted doses of 5-FU...
  2. doi ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients
    Andre B P van Kuilenburg
    Academic Medical Center, Emma Children s Hospital, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, 1105 AZ Amsterdam, The Netherlands
    Biochim Biophys Acta 1822:1096-108. 2012
    ..Two mutations were identified in several unrelated ß-ureidopropionase patients, indicating that ß-ureidopropionase deficiency may be more common than anticipated...
  3. ncbi Determination of thymidine phosphorylase activity in human blood cells and fibroblasts by a nonradiochemical assay using reversed-phase high-performance liquid chromatography
    A B P van Kuilenburg
    Academic Medical Center, Emma Children s Hospital and Department of Clinical Chemistry, University of Amsterdam, Amsterdam, The Netherlands
    Nucleosides Nucleotides Nucleic Acids 25:1261-4. 2006
    ..The activity of TP in leukocytes proved to be intermediate compared to the TP activity observed in PBM cells and granulocytes. The activity of TP also was readily detectable in human fibroblasts...
  4. ncbi Determination of 5-fluorouracil in plasma with HPLC-tandem mass spectrometry
    A B P van Kuilenburg
    Academic Medical Center, University of Amsterdam, Emma Children s Hospital and Department of Clinical Chemistry, Amsterdam, The Netherlands
    Nucleosides Nucleotides Nucleic Acids 25:1257-60. 2006
    ..98). Thus, HPLC with electrospray ionization tandem mass spectrometry allows the rapid analysis of 5FU levels in plasma and could, therefore, be used for therapeutic drug monitoring...
  5. ncbi Analysis of pyrimidine synthesis de novo intermediates in urine during crisis of a patient with ornithine transcarbamylase deficiency
    A B P van Kuilenburg
    Academic Medical Center, University of Amsterdam, Emma Children s Hospital, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands
    Nucleosides Nucleotides Nucleic Acids 25:1251-5. 2006
    ..The level of pyrimidine excretion appeared to be independent of the ammonia levels in blood, which were only mildly increased...
  6. ncbi Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD
    A B P van Kuilenburg
    Academic Medical Center, Amsterdam, The Netherlands
    Nucleosides Nucleotides Nucleic Acids 29:509-14. 2010
    ..No DPD activity could be detected in peripheral blood mononuclear cells. Analysis of the gene encoding DPD (DPYD) showed that the patient was homozygous for a novel c.505_513del (p.169_171del) mutation in exon 6 of DPYD...
  7. ncbi A pivotal role for beta-aminoisobutyric acid and oxidative stress in dihydropyrimidine dehydrogenase deficiency?
    A B P van Kuilenburg
    Academic Medical Center, University of Amsterdam, Emma Children s Hospital and Department of Clinical Chemistry, Amsterdam, The Netherlands
    Nucleosides Nucleotides Nucleic Acids 25:1103-6. 2006
    ..In contrast, slightly elevated levels of 8-OHdG were detected in urine from DPD patients with an age >2 year, suggesting the presence of increased oxidative stress...
  8. ncbi Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency
    A B P van Kuilenburg
    Department of Clinical Chemistry, Academic Medical Center, Emma Children s Hospital, Amsterdam, The Netherlands
    Nucleosides Nucleotides Nucleic Acids 25:1093-8. 2006
    ..The alanine at position 85 was not conserved in other eukaryotic beta-ureidopropionase protein sequences...
  9. ncbi Screening for dihydropyrimidine dehydrogenase deficiency: to do or not to do, that's the question
    Andre B P van Kuilenburg
    Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, Emma Children s Hospital, Amsterdam, The Netherlands
    Cancer Invest 24:215-7. 2006
    ....
  10. ncbi Activity of pyrimidine degradation enzymes in normal tissues
    A B P van Kuilenburg
    Academic Medical Center, University of Amsterdam, Emma Children s Hospital and Departments of Clinical Chemistry, Amsterdam, The Netherlands
    Nucleosides Nucleotides Nucleic Acids 25:1211-4. 2006
    ..However, significant residual activities of DPD, DHP and beta-UP were also present in a variety of other tissues, especially in bronchus...
  11. doi 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)
    Andre B P van Kuilenburg
    Department of Clinical Chemistry, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Hum Genet 125:581-90. 2009
    ..Our study showed for the first time the presence of genomic deletions affecting DPYD in 7% (5/72) of all DPD deficient patients. Therefore, screening of DPD deficient patients for genomic deletions should be considered...
  12. ncbi Increased dihydropyrimidine dehydrogenase activity associated with mild toxicity in patients treated with 5-fluorouracil and leucovorin
    Andre B P van Kuilenburg
    Academic Medical Center, University of Amsterdam, Emma Children s Hospital and Department of Clinical Chemistry, P O Box 22700, 1100 DE Amsterdam, The Netherlands
    Eur J Cancer 43:459-65. 2007
    ..002). Patients with a high-normal DPD activity proved to be at risk of developing mild toxicity upon treatment with 5FU-leucovorin, suggesting an important role of DPD in the aetiology of toxicity associated with catabolites of 5FU...
  13. ncbi HPLC-electrospray tandem mass spectrometry for rapid determination of dihydropyrimidine dehydrogenase activity
    Andre B P van Kuilenburg
    Emma Children s Hospital and Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Clin Chem 53:528-30. 2007
    ..We developed a rapid and specific method to measure the DPD activity in peripheral blood mononuclear cells using HPLC tandem-mass spectrometry (HPLC-MS/MS)...
  14. doi Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients
    Andre B P van Kuilenburg
    Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Center, Emma Children s Hospital, 1105 AZ Amsterdam, The Netherlands
    Biochim Biophys Acta 1802:639-48. 2010
    ..S379R and p.L7V mutations were likely to cause structural destabilization and protein misfolding. Four mutations were identified in multiple unrelated DHP patients, indicating that DHP deficiency may be more common than anticipated...
  15. doi Beta-alanine and beta-aminoisobutyric acid levels in two siblings with dihydropyrimidinase deficiency
    A B P van Kuilenburg
    Academic Medical Center, Department of Clinical Chemistry, University of Amsterdam, Amsterdam, The Netherlands
    Nucleosides Nucleotides Nucleic Acids 27:825-9. 2008
    ..Thus, the relevance of the shortage of beta-aminoisobutyric acid for the onset of a clinical phenotype in patients with DHP deficiency remains to be established...
  16. doi Identification of two novel mutations C79X and R235Q in the dihydropyrimidine dehydrogenase gene in a patient presenting with hematuria
    A B P van Kuilenburg
    Academic Medical Center, Department of Clinical Chemistry, University of Amsterdam, Emma Children s Hospital, Amsterdam, The Netherlands
    Nucleosides Nucleotides Nucleic Acids 27:809-15. 2008
    ..Analysis of the crystal structure of pig DPD suggested that the R235Q mutation might interfere with the binding of FAD and the electron flow between the NADPH and the pyrimidine substrate site of DPD...
  17. doi Altered dihydropyrimidine dehydrogenase activity associated with mild toxicity in patients treated with 5-fluorouracil containing chemotherapy
    Andre B P van Kuilenburg
    Emma Children s Hospital and Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Nucleosides Nucleotides Nucleic Acids 27:726-32. 2008
    ....
  18. doi Pharmacokinetics of 5-fluorouracil in patients heterozygous for the IVS14+1G > A mutation in the dihydropyrimidine dehydrogenase gene
    A B P van Kuilenburg
    Academic Medical Center, Emma Children s Hospital and Department of Clinical Chemistry, University of Amsterdam, Amsterdam, The Netherlands
    Nucleosides Nucleotides Nucleic Acids 27:692-8. 2008
    ..Thus, a DPD deficiency could be predicted from 5FU blood concentrations measured after the administration of a test dose of 5FU...
  19. ncbi Determination of adenosine deaminase activity in dried blood spots by a nonradiochemical assay using reversed-phase high-performance liquid chromatography
    A B P van Kuilenburg
    Academic Medical Center, Emma Children s Hospital, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands
    Nucleosides Nucleotides Nucleic Acids 29:461-5. 2010
    ..In addition, increased ADA activity as found in a rare form of congenital anemia can be assessed, as observed in a bloodspot from a patient diagnosed with Diamond Blackfan anemia (ADA activity 150 nmol/mg/h)...
  20. ncbi Identification of purine nucleoside phosphorylase deficiency in dried blood spots by a non-radiochemical assay using reversed-phase high-performance liquid chromatography
    A B P van Kuilenburg
    Academic Medical Center, Emma Children s Hospital, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands
    Nucleosides Nucleotides Nucleic Acids 29:466-70. 2010
    ..614A > C mutation (p.E205A) in the PNP gene was 34% compared to controls. Thus, the analysis of the PNP activity in blood spots can readily detect patients with a PNP deficiency...
  21. ncbi Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency
    Andre B P van Kuilenburg
    Academic Medical Center, University of Amsterdam, Emma Children s Hospital, P O Box 22700, 1100 DE Amsterdam, The Netherlands
    Mol Genet Metab 91:157-64. 2007
    ....
  22. ncbi Determination of thymidine phosphorylase activity by a non-radiochemical assay using reversed-phase high-performance liquid chromatography
    Andre B P van Kuilenburg
    Academic Medical Center, University of Amsterdam, Emma Children s Hospital and Department of Clinical Chemistry, 1100 DE Amsterdam, The Netherlands
    J Chromatogr B Analyt Technol Biomed Life Sci 820:271-275. 2005
    ..8 pmol. The assay was linear with reaction times, up to at least 4 h, and protein concentrations up to at least 65 microg/ml. Population analysis showed no differences in TP activity between man and women or with increasing age...
  23. ncbi A radiochemical assay for beta-ureidopropionase using radiolabeled N-carbamyl-beta-alanine obtained via hydrolysis of [2-(14)C]5, 6-dihydrouracil
    A B Van Kuilenburg
    Academic Medical Center, University of Amsterdam, Emma Children s Hospital and Department of Clinical Chemistry, Amsterdam, 1100 DE, The Netherlands
    Anal Biochem 272:250-3. 1999
    ..5 +/- 1.9 microM. The assay proved to be very accurate and sensitive with an intraassay coefficient of variation of 2% and a detection limit of 28 pmol for the product CO(2)...
  24. pmc Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure
    Andre B P van Kuilenburg
    Academic Medical Center, University of Amsterdam, Emma Children s Hospital and Department of Chemistry, The Netherlands
    Biochem J 364:157-63. 2002
    ..Our data demonstrate for the first time the possible consequences of missense mutations in the DPD gene on the function and stability of the DPD enzyme...
  25. ncbi High prevalence of the IVS14 + 1G>A mutation in the dihydropyrimidine dehydrogenase gene of patients with severe 5-fluorouracil-associated toxicity
    André B Van Kuilenburg
    Academic Medical Center, University of Amsterdam, Emma Children s Hospital and Department of Clinical Chemistry, Amsterdam, The Netherlands
    Pharmacogenetics 12:555-8. 2002
    ..The apparently high prevalence of the IVS14 + 1G>A mutation warrants genetic screening for this mutation in cancer patients before the administration of 5FU...
  26. ncbi Pharmacogenetic and clinical aspects of dihydropyrimidine dehydrogenase deficiency
    Andre B P van Kuilenburg
    Academic Medical Center, University of Amsterdam, Laboratory of Genetic Metabolic Diseases, Emma Children s Hospital and Department of Clinical Chemistry, PO Box 22700, 1100 DE Amsterdam
    Ann Clin Biochem 40:41-5. 2003
    ....
  27. ncbi Detection of beta-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level
    A B Van Kuilenburg
    Academic Medical Center, University of Amsterdam, Emma Children s Hospital and Department of Clinical Chemistry, The Netherlands
    J Inherit Metab Dis 24:725-32. 2001
    ..Thus, HPLC-tandem mass specrometry proved to be a powerful tool for the initial diagnosis of patients with deficiency of beta-ureidopropionase...
  28. ncbi 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
    A B Van Kuilenburg
    Emma Children s Hospital and Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands
    Clin Cancer Res 7:1149-53. 2001
    ..8% heterozygotes, warrants genetic screening for the presence of this mutation in cancer patients before the administration of 5FU...
  29. pmc New insights in dihydropyrimidine dehydrogenase deficiency: a pivotal role for beta-aminoisobutyric acid?
    Andre B P van Kuilenburg
    Emma Children s Hospital and Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, The Netherlands
    Biochem J 379:119-24. 2004
    ..Furthermore, the observation that the R-enantiomer of beta-AIB is abundantly present in the urine of DPD patients suggests that significant cross-over exists between the thymine and valine catabolic pathways...
  30. ncbi Quantification of 5,6-dihydrouracil by HPLC-electrospray tandem mass spectrometry
    Andre B P van Kuilenburg
    Academic Medical Center, University of Amsterdam, Emma Children s Hospital and Department of Clinical Chemistry, PO Box 22700, 1100 DE Amsterdam, The Netherlands
    Clin Chem 50:236-8. 2004
  31. ncbi Dihydropyrimidine dehydrogenase and the efficacy and toxicity of 5-fluorouracil
    Andre B P van Kuilenburg
    Academic Medical Center, University of Amsterdam, Emma Children s Hospital and Department of Clinical Chemistry, PO Box 22700, 1100 DE Amsterdam, The Netherlands
    Eur J Cancer 40:939-50. 2004
    ..The IVS14+1G>A mutation proved to be the most common one and was detected in 24-28% of all patients suffering from severe 5-FU toxicity. Thus, a deficiency of DPD appears to be an important pharmacogenetic syndrome...
  32. pmc Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity
    Andre B P van Kuilenburg
    Department of Clinical Chemistry, Academic Medical Center, Emma Children s Hospital, University of Amsterdam, Amsterdam, The Netherlands
    Hum Genet 128:529-38. 2010
    ..We conclude that screening for DPD deficiency should include a search for genomic rearrangements and aberrant splicing...
  33. ncbi Clinical implications of dihydropyrimidine dehydrogenase (DPD) deficiency in patients with severe 5-fluorouracil-associated toxicity: identification of new mutations in the DPD gene
    A B Van Kuilenburg
    Academic Medical Center, University of Amsterdam, Emma Children s Hospital and Department of Clinical Chemistry, The Netherlands
    Clin Cancer Res 6:4705-12. 2000
    ..Our results demonstrated that at least 57% (8 of 14) of the patients with a reduced DPD activity have a molecular basis for their deficient phenotype...
  34. ncbi Identification of a cDNA encoding an isoform of human CTP synthetase
    A B Van Kuilenburg
    Academic Medical Center, University of Amsterdam, Emma Children s Hospital and Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, PO Box 22700, 1100 DE, Amsterdam, The Netherlands
    Biochim Biophys Acta 1492:548-52. 2000
    ..The gene encoding type II CTP synthetase has been localized on chromosome Xp22...
  35. ncbi Pitfalls in the diagnosis of patients with a partial dihydropyrimidine dehydrogenase deficiency
    A B Van Kuilenburg
    Laboratory Genetic Metabolic Diseases, F0 224, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Clin Chem 46:9-17. 2000
    ..To identify patients suffering from complete or partial DPD deficiency and to identify pitfalls that can preclude the proper diagnosis of patients with partial DPD deficiency, a sensitive and accurate assay is necessary...
  36. ncbi Analysis of pyrimidine synthesis "de novo" intermediates in urine and dried urine filter- paper strips with HPLC-electrospray tandem mass spectrometry
    Andre B P van Kuilenburg
    Academic Medical Center, University of Amsterdam, Emma Children s Hospital and Departments of Clinical Chemistry, Amsterdam, The Netherlands
    Clin Chem 50:2117-24. 2004
    ..Until now, no procedure was available that allowed the analysis of all of these metabolites in a single analytical run. We describe a rapid, specific method to measure these metabolites by HPLC-tandem mass spectrometry...
  37. ncbi beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities
    Andre B P van Kuilenburg
    Department of Clinical Chemistry, Emma Children s Hospital, The Netherlands
    Hum Mol Genet 13:2793-801. 2004
    ..Thus, a beta-ureidopropionase deficiency might not be as rare as is generally considered...
  38. ncbi 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
    Andre B P van Kuilenburg
    Emma Children s Hospital and Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, The Netherlands
    Int J Cancer 101:253-8. 2002
    ....
  39. ncbi Cyclopentenyl cytosine primes SK-N-BE(2)c neuroblastoma cells for cytarabine toxicity
    Jörgen Bierau
    Department of Clinical Chemistry, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, The Netherlands
    Int J Cancer 103:387-92. 2003
    ..In contrast, AraC alone did not induce caspase-3 activity. Our results demonstrate that low concentrations of CPEC profoundly increase the cytostatic properties of AraC toward SK-N-BE(2)c human neuroblastoma cells...
  40. ncbi Cyclopentenyl cytosine-induced activation of deoxycytidine kinase increases gemcitabine anabolism and cytotoxicity in neuroblastoma
    Jörgen Bierau
    Academic Medical Center, Department of Clinical Chemistry and Emma Children s Hospital, University of Amsterdam, 1100 Amsterdam, DE, The Netherlands
    Cancer Chemother Pharmacol 57:105-13. 2006
    ..In conclusion, the combination of dFdC and CPEC is highly toxic to neuroblastoma in vitro...
  41. ncbi Antagonistic effects of sequential administration of BL1521, a histone deacetylase inhibitor, and gemcitabine to neuroblastoma cells
    Annemieke J M de Ruijter
    Laboratory Genetic Metabolic Diseases, Department of Paediatrics Emma Children s Hospital and Clinical Chemistry, Academic Medical Centre, University of Amsterdam, P O Box 22700, 1100 DE Amsterdam, The Netherlands
    Cancer Lett 233:240-6. 2006
    ..Furthermore, no difference in the deoxycytidine kinase activity was observed in response to BL1521. In conclusion, cancer cells that respond to HDACi with a cell cycle arrest and differentiation may no longer be sensitive to dFdC...
  42. ncbi Dihydropyrimidinase deficiency and severe 5-fluorouracil toxicity
    Andre B P van Kuilenburg
    Academic Medical Center, University of Amsterdam, Emma Children s Hospital, and Department of Clinical Chemistry, 1100 DE Amsterdam, The Netherlands
    Clin Cancer Res 9:4363-7. 2003
    ..5%. Our results show that a partial DHP deficiency is a novel pharmacogenetic disorder associated with severe 5FU toxicity...
  43. pmc Fenretinide induces mitochondrial ROS and inhibits the mitochondrial respiratory chain in neuroblastoma
    Roos Cuperus
    Laboratory Genetic Metabolic Diseases, Department of Pediatrics Emma Children s Hospital, Academic Medical Centre, University of Amsterdam, P O Box 22700, 1100 DE, Amsterdam, The Netherlands
    Cell Mol Life Sci 67:807-16. 2010
    ..The cytotoxicity of fenretinide was exerted through the generation of mitochondrial ROS and, at higher concentrations, also through inhibition of the mitochondrial respiratory chain...
  44. ncbi Retinoic acid reduces the cytotoxicity of cyclopentenyl cytosine in neuroblastoma cells
    Jörgen Bierau
    Academic Medical Center, University of Amsterdam, Department of Clinical Chemistry and Emma Children s Hospital, P O Box 22700, 1100 DE, Amsterdam, The Netherlands
    FEBS Lett 527:229-33. 2002
    ..Retinoic acid likely confers resistance of neuroblastoma cells to CPEC in part by slowing down proliferation, and in part by shifting the synthesis of CTP towards the salvage of cytidine, thereby bypassing CTP synthetase...
  45. ncbi Gene expression profiling in response to the histone deacetylase inhibitor BL1521 in neuroblastoma
    Annemieke J M de Ruijter
    Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Department of Pediatrics Emma Children s Hospital and Clinical Chemistry, PO Box 22700, 1100 DE Amsterdam, The Netherlands
    Exp Cell Res 309:451-67. 2005
    ..Several genes in the Wnt and the Delta/Notch pathways were changed in response to BL1521 treatment, suggesting that BL1521 is able to induce the differentiation of neuroblastoma cells into a more mature phenotype...
  46. ncbi Histone deacetylase inhibitor BL1521 induces a G1-phase arrest in neuroblastoma cells through altered expression of cell cycle proteins
    Krista Ouwehand
    Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, P O Box 22700, 1100 DE Amsterdam, The Netherlands
    FEBS Lett 579:1523-8. 2005
    ..BL1521 also induced downregulation of p27, which may underlie the observed induction of apoptosis...
  47. doi 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
    Andre B P van Kuilenburg
    Academic Medical Center, University of Amsterdam, Emma Childrens Hospital and Department of Clinical Chemistry, Amsterdam, The
    Clin Pharmacokinet 51:163-74. 2012
    ..The aim of this study was to evaluate the pharmacokinetics of 5FU and to develop a limited sampling strategy to detect decreased 5FU elimination in patients with a c.1905+1G>A-related DPD deficiency...
  48. ncbi Promising effects of the 4HPR-BSO combination in neuroblastoma monolayers and spheroids
    Roos Cuperus
    Laboratory of Genetic Metabolic Diseases and Department of Pediatrics Emma Children s Hospital, Academic Medical Center, University of Amsterdam, 1100 DE Amsterdam, The Netherlands
    Free Radic Biol Med 51:1213-20. 2011
    ..This indicates that the 4HPR-BSO combination might be a promising new strategy in the treatment of neuroblastoma...
  49. pmc Histone deacetylases (HDACs): characterization of the classical HDAC family
    Annemieke J M de Ruijter
    Academic Medical Centre, University of Amsterdam, Amsterdam, The, Netherlands
    Biochem J 370:737-49. 2003
    ..This challenging field has generated many fascinating results which will ultimately lead to a better understanding of the mechanism of gene transcription as a whole...
  50. doi Synergistic interaction between cisplatin and gemcitabine in neuroblastoma cell lines and multicellular tumor spheroids
    Odette G Besançon
    Academic Medical Center, University of Amsterdam, Laboratory Genetic Metabolic Diseases, PO Box 22700, 1100 DE Amsterdam, The Netherlands
    Cancer Lett 319:23-30. 2012
    ..Therefore, we feel that inclusion of gemcitabine into cisplatin-containing regiments might be a promising new strategy for the treatment of neuroblastoma...
  51. ncbi Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function
    Andre B P van Kuilenburg
    Academic Medical Center, University of Amsterdam, Emma Children s Hospital and Department of Clinical Chemistry, P O Box 22700, NL 1100 DE Amsterdam, The Netherlands
    Biol Chem 386:319-24. 2005
    ..The identification of these novel mutations in DPYD will allow the identification of patients with an increased risk of developing severe 5FU-associated toxicity...
  52. ncbi The novel histone deacetylase inhibitor BL1521 inhibits proliferation and induces apoptosis in neuroblastoma cells
    Annemieke J M de Ruijter
    Laboratory Genetic Metabolic Diseases, Department of Paediatrics Emma Children s Hospital and Clinical Chemistry, Academic Medical Centre, University of Amsterdam, P O Box 22700, 1100 DE Amsterdam, The Netherlands
    Biochem Pharmacol 68:1279-88. 2004
    ..Our results show that BL1521 is a potent inhibitor of HDAC and that HDACs are an attractive target for selective chemotherapy in neuroblastoma...
  53. ncbi Cyclopentenyl cytosine has biological and anti-tumour activity, but does not enhance the efficacy of gemcitabine and radiation in two animal tumour models
    Chris van Bree
    Department of Radiation Oncology, Laboratory for Experimental Oncology and Radiobiology, Academic Medical Centre University of Amsterdam, 1100 DE Amsterdam, The Netherlands
    Int J Oncol 34:813-9. 2009
    ..In conclusion, future clinical development of CPEC as a modulator of gemcitabine combined with radiation is unlikely...
  54. doi Cholestasis is associated with hepatic microvascular dysfunction and aberrant energy metabolism before and during ischemia-reperfusion
    Jaap J Kloek
    Department of Experimental Surgery, Academic Medical Center, Amsterdam, The Netherlands
    Antioxid Redox Signal 17:1109-23. 2012
    ....
  55. pmc Hydrogen sulfide donor NaHS reduces organ injury in a rat model of pneumococcal pneumosepsis, associated with improved bio-energetic status
    Hamid Aslami
    Laboratory of Experimental Intensive Care and Anesthesiology, Academic Medical Center, Amsterdam, The Netherlands
    PLoS ONE 8:e63497. 2013
    ..Further studies on the involvement of mitochondria in sepsis are required...
  56. ncbi 5-fluorocytosine-related bone-marrow depression and conversion to fluorouracil: a pilot study
    Andras Vermes
    Department of Clinical Pharmacy, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Fundam Clin Pharmacol 16:39-47. 2002
    ..These findings may be explained by the fact that our patients received 5-FC intravenously instead of orally, therefore not allowing active conversion of 5-FC to 5-FU by the human intestinal microflora...
  57. ncbi Pleiotropic effects of fenretinide in neuroblastoma cell lines and multicellular tumor spheroids
    Roos Cuperus
    Laboratory Genetic Metabolic Diseases and Department of Pediatrics Emma Children s Hospital, Academic Medical Centre, University of Amsterdam, 1100 DE Amsterdam, The Netherlands
    Int J Oncol 32:1011-9. 2008
    ..Our results suggest that 4-HPR might be a promising agent for the treatment of micrometastases and high-risk neuroblastoma...
  58. doi Paradoxical elevated thiopurine S-methyltransferase activity after pancytopenia during azathioprine therapy: potential influence of red blood cell age
    Nanne K H de Boer
    Gastroenterology and Hepatology, VU University Medical Center, Amsterdam, The Netherlands
    Ther Drug Monit 30:390-3. 2008
    ..Determination of a patient's TPMT status by phenotyping should therefore not be performed just after bone marrow depression or in cases of activated erythropoieses...
  59. doi 6-mercaptopurine inhibits atherosclerosis in apolipoprotein e*3-leiden transgenic mice through atheroprotective actions on monocytes and macrophages
    Thijs W H Pols
    Department of Medical Biochemistry, Academic Medical Center, Amsterdam, The Netherlands
    Arterioscler Thromb Vasc Biol 30:1591-7. 2010
    ..Here, we aimed to gain knowledge on the action of 6-MP in atherosclerosis, with a focus on monocytes and macrophages...
  60. ncbi Cyclopentenyl cytosine increases the phosphorylation and incorporation into DNA of 1-beta-D-arabinofuranosyl cytosine in a human T-lymphoblastic cell line
    Arnauld C Verschuur
    Laboratory of Genetic Metabolic Diseases, Division of Clinical Chemistry, Academic Medical Centre, University of Amsterdam, Emma Kinderziekenhuis AMC, Amsterdam, The Netherlands
    Int J Cancer 98:616-23. 2002
    ..The modulation by CPEC of araC metabolism was accompanied by a synergistic increase of araC-induced apoptosis and by an additive effect on the araC-induced growth inhibition...
  61. doi Role of human hypoxanthine guanine phosphoribosyltransferase in activation of the antiviral agent T-705 (favipiravir)
    Lieve Naesens
    Rega Institute for Medical Research, KU Leuven, Leuven, Belgium L N, J V V, J B School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Queensland, Australia L W G, D T K and Laboratory of Genetic Metabolic Diseases, Academic Medical Center, Amsterdam, The Netherlands A B P v K, J M
    Mol Pharmacol 84:615-29. 2013
    ..Since conversion of T-705 by HGPRT appears to be inefficient, T-705-RMP prodrugs may be designed to increase the antiviral potency of this new antiviral agent. ..
  62. doi Mycophenolate mofetil inhibits T-cell proliferation in kidney transplant recipients without lowering intracellular dGTP and GTP
    Sanjay U C Sankatsing
    Division of Infectious Diseases, Tropical Medicine and AIDS, Department of Internal Medicine, and Center for Infection and Immunity Amsterdam CINIMA, University of Amsterdam, Amsterdam, The Netherlands
    Transpl Int 21:1066-71. 2008
    ..MMF inhibits T-lymphocyte proliferation in kidney transplant recipients without lowering intracellular dGTP or GTP levels. This suggests another mechanism underlying its immunosuppressive capacity...