Publications by authors named "Andre B P van Kuilenburg"

100Publications

Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients.

Neurogenetics 2020 Oct 7;21(4):289-299. Epub 2020 Jul 7.

Amsterdam Leukodystrophy Center, Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Center, VU University Amsterdam and Amsterdam Neuroscience, De Boelelaan, 1117, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10048-020-00621-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7476914PMC
October 2020

Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers.

Mol Genet Metab 2020 05 12;130(1):16-26. Epub 2020 Feb 12.

Amsterdam UMC, University of Amsterdam, Department of Endocrinology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2020.02.002DOI Listing
May 2020

Developments in the treatment of Fabry disease.

J Inherit Metab Dis 2020 Sep 2;43(5):908-921. Epub 2020 Mar 2.

Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/jimd.12228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7540041PMC
September 2020

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS. Reply.

N Engl J Med 2019 09;381(12):1185

Amsterdam University Medical Centers, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1056/NEJMc1907427DOI Listing
September 2019

Plasma dopa decarboxylase activity in treatment-resistant recent-onset psychosis patients.

Ther Adv Psychopharmacol 2019 6;9:2045125319872341. Epub 2019 Sep 6.

Department of Radiology and Nuclear Medicine, Amsterdam UMC, University of Amsterdam, The Netherlands.

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http://dx.doi.org/10.1177/2045125319872341DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732859PMC
September 2019

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in .

N Engl J Med 2019 04;380(15):1433-1441

From Amsterdam University Medical Centers, University of Amsterdam, Departments of Clinical Chemistry, Pediatrics, and Clinical Genetics, Emma Children's Hospital, Amsterdam Gastroenterology and Metabolism (A.B.P.K., R.L., J.K., J. Meijer, L.A.T., M.T., M.W., R.J.A.W., H.R.W., C.D.M.K.), and United for Metabolic Diseases (A.B.P.K., R.J.A.W., H.R.W., C.D.M.K.), Amsterdam, and the Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht (J.J.F.A.V., J.H.V.), and the Project MinE ALS Sequencing Consortium (J.J.F.A.V., J.H.V.), Utrecht - all in the Netherlands; the Departments of Biochemistry and Molecular Biology and Medical Genetics, Cumming School of Medicine, and Alberta Children's Hospital Research Institute, University of Calgary, Calgary (M.T.-G.), Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute (P.A.R., M.J.J., M.S.K., J. MacIsaac, W.W.W., C.D.M.K.), the Faculty of Pharmaceutical Sciences (B.I.D., G.E.B.W., C.J.R.), and the Departments of Medical Genetics (C.M., I.-S.R.-B., W.W.W.) and Pediatrics (C.D.M.K.), University of British Columbia, Vancouver, the Zebrafish Centre for Advanced Drug Discovery, St. Michael's Hospital and University of Toronto (K.B.-A., F.K., M.L., Y.W., X.-Y.W.), the Centre for Applied Genomics, Genetics and Genome Biology, the Hospital for Sick Children (C.N., S.W.S., B.T., R.K.C.Y.), and the Department of Molecular Genetics (C.N., S.W.S., R.K.C.Y.), the McLaughlin Centre (S.W.S.), and the Departments of Medicine, Physiology, and Laboratory Medicine and Pathobiology, Institute of Medical Science (X.-Y.W.), University of Toronto, Toronto, and the Division of Medical Genetics, Department of Pediatrics, Children's Hospital Eastern Ontario, University of Ottawa, Ottawa (J.S.W., M.T.G.) - all in Canada; the Departments of Medicine and Physiology, National University of Singapore (M.A.P.), and the Translational Laboratory in Genetic Medicine, Agency for Science, Technology, and Research (M.A.P., B.S., X.X., J.Z.) - both in Singapore; Uppsala University, Department of Chemistry-Biomedical Center, Uppsala, Sweden (D.D.); Illumina, San Diego, CA (E.D., M.A.E.); Gene Structure and Disease Section, Laboratory of Cell and Molecular Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD (B.H., D.K., K.U.); and the Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, United Kingdom (S.S.).

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http://dx.doi.org/10.1056/NEJMoa1806627DOI Listing
April 2019

Liposome-targeted recombinant human acid sphingomyelinase: Production, formulation, and in vitro evaluation.

Eur J Pharm Biopharm 2019 Apr 25;137:185-195. Epub 2019 Feb 25.

Department of Pharmaceutical Sciences, Utrecht Institute for Pharmaceutical Sciences (UIPS), Faculty of Science, Utrecht University, Utrecht, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ejpb.2019.02.019DOI Listing
April 2019

Translational Metabolism: A multidisciplinary approach towards precision diagnosis of inborn errors of metabolism in the omics era.

J Inherit Metab Dis 2019 03 5;42(2):197-208. Epub 2019 Feb 5.

Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/jimd.12008DOI Listing
March 2019

Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure.

Biochim Biophys Acta Mol Basis Dis 2019 06 15;1865(6):1182-1191. Epub 2019 Jan 15.

Departments of Clinical Chemistry, Pediatrics and Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam Gastroenterology & Metabolism, 1105 AZ Amsterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2019.01.013DOI Listing
June 2019

A cost analysis of upfront DPYD genotype-guided dose individualisation in fluoropyrimidine-based anticancer therapy.

Eur J Cancer 2019 01 11;107:60-67. Epub 2018 Dec 11.

Division of Pharmacology, The Netherlands Cancer Institute, Amsterdam, the Netherlands; Department of Clinical Pharmacology, Division of Medical Oncology, The Netherlands Cancer Institute, Amsterdam, the Netherlands; Division of Pharmacoepidemiology and Clinical Pharmacology, Department of Pharmaceutical Sciences, Faculty of Science, Utrecht University, Utrecht, the Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S09598049183147
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http://dx.doi.org/10.1016/j.ejca.2018.11.010DOI Listing
January 2019

Diagnostic and Therapeutic Strategies for Fluoropyrimidine Treatment of Patients Carrying Multiple DPYD Variants.

Genes (Basel) 2018 Nov 28;9(12). Epub 2018 Nov 28.

Department of Clinical Pharmacy & Toxicology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.

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http://dx.doi.org/10.3390/genes9120585DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6316498PMC
November 2018

Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1.

JIMD Rep 2019 23;45:65-69. Epub 2018 Oct 23.

Amsterdam UMC, University of Amsterdam, Departments of Clinical Chemistry, Genetics and Pediatrics, Amsterdam Gastroenterology & Metabolism, Amsterdam, The Netherlands.

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http://link.springer.com/10.1007/8904_2018_138
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http://dx.doi.org/10.1007/8904_2018_138DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336675PMC
October 2018

DPYD genotype-guided dose individualisation of fluoropyrimidine therapy in patients with cancer: a prospective safety analysis.

Lancet Oncol 2018 11 19;19(11):1459-1467. Epub 2018 Oct 19.

Division of Pharmacology, The Netherlands Cancer Institute, Amsterdam, Netherlands; Department of Clinical Pharmacology, Division of Medical Oncology, The Netherlands Cancer Institute, Amsterdam, Netherlands; Division of Pharmacoepidemiology and Clinical Pharmacology, Department of Pharmaceutical Sciences, Faculty of Science, Utrecht University, Utrecht, Netherlands. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S14702045183068
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http://dx.doi.org/10.1016/S1470-2045(18)30686-7DOI Listing
November 2018

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.

Hum Mutat 2018 07 10;39(7):947-953. Epub 2018 May 10.

Departments of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Pediatrics and Clinical Genetics, Academic Medical Center, University of Amsterdam, Emma Children's Hospital, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1002/humu.23538DOI Listing
July 2018

The pathophysiology of human obstructive cholestasis is mimicked in cholestatic Gold Syrian hamsters.

Biochim Biophys Acta Mol Basis Dis 2018 Mar 28;1864(3):942-951. Epub 2017 Nov 28.

Department of Experimental Surgery, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Membrane Biochemistry and Biophysics, Bijvoet Center for Biomolecular Research, Institute of Biomembranes, Utrecht University, Utrecht, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2017.11.022DOI Listing
March 2018

Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity.

Mol Genet Metab 2017 12 12;122(4):216-222. Epub 2017 Oct 12.

Academic Medical Center, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, 1105, AZ, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.10.003DOI Listing
December 2017

Capecitabine-based treatment of a patient with a novel DPYD genotype and complete dihydropyrimidine dehydrogenase deficiency.

Int J Cancer 2018 01 30;142(2):424-430. Epub 2017 Sep 30.

Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ijc.31065DOI Listing
January 2018

Hypothermic perfusion with retrograde outflow during right hepatectomy is safe and feasible.

Surgery 2017 07 24;162(1):48-58. Epub 2017 Mar 24.

Department of Surgery, Surgical Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.surg.2017.01.024DOI Listing
July 2017

Catecholamines profiles at diagnosis: Increased diagnostic sensitivity and correlation with biological and clinical features in neuroblastoma patients.

Eur J Cancer 2017 02 4;72:235-243. Epub 2017 Jan 4.

Department of Pediatric Oncology/Hematology, Emma Children's Hospital/Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands; Princess Máxima Center for Pediatric Oncology/Hematology, Lundlaan 6, 3584 EA Utrecht, The Netherlands. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09598049163306
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http://dx.doi.org/10.1016/j.ejca.2016.12.002DOI Listing
February 2017

Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing.

Biochim Biophys Acta Mol Basis Dis 2017 03 24;1863(3):721-730. Epub 2016 Dec 24.

Academic Medical Center, University of Amsterdam, Emma Children's Hospital, Departments of Clinical Chemistry, Pediatrics and Clinical Genetics, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.bbadis.2016.12.010DOI Listing
March 2017

Creatine kinase inhibition lowers systemic arterial blood pressure in spontaneously hypertensive rats: a randomized controlled trial.

J Hypertens 2016 12;34(12):2418-2426

aDepartment of Vascular Medicine bLaboratory for Genetic and Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam cDepartment of Vascular Medicine and Pharmacology, Erasmus Medical Center, Rotterdam dDepartment of Obstetrics and Gynaecology and Reproductive Biology Laboratory eDepartment of Internal Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands fThe Vontz Center for Molecular Studies, University of Cincinnati, Cincinnati, Ohio, USA.

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http://dx.doi.org/10.1097/HJH.0000000000001090DOI Listing
December 2016

Genotypes Affecting the Pharmacokinetics of Anticancer Drugs.

Clin Pharmacokinet 2017 04;56(4):317-337

Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Emma Children's Hospital, F0-220, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s40262-016-0450-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340837PMC
April 2017

Patients homozygous for DPYD c.1129-5923C>G/haplotype B3 have partial DPD deficiency and require a dose reduction when treated with fluoropyrimidines.

Cancer Chemother Pharmacol 2016 10 20;78(4):875-80. Epub 2016 Aug 20.

Department of Clinical Pharmacology, Division of Medical Oncology, The Netherlands Cancer Institute, Plesmanlaan 121, 1066 CX, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00280-016-3137-0DOI Listing
October 2016

Hyperferritinemia and iron metabolism in Gaucher disease: Potential pathophysiological implications.

Blood Rev 2016 11 27;30(6):431-437. Epub 2016 May 27.

Department of Internal Medicine, division of Endocrinology and Metabolism, Academic Medical Center Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.blre.2016.05.003DOI Listing
November 2016

The pivotal role of uridine-cytidine kinases in pyrimidine metabolism and activation of cytotoxic nucleoside analogues in neuroblastoma.

Biochim Biophys Acta 2016 09 27;1862(9):1504-12. Epub 2016 May 27.

Academic Medical Center, University of Amsterdam, Emma Children's Hospital, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.bbadis.2016.05.012DOI Listing
September 2016

Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene.

Biochim Biophys Acta 2016 04 12;1862(4):754-762. Epub 2016 Jan 12.

Department of Clinical Chemistry, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.

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http://dx.doi.org/10.1016/j.bbadis.2016.01.009DOI Listing
April 2016

Altered Pre-mRNA Splicing Caused by a Novel Intronic Mutation c.1443+5G>A in the Dihydropyrimidinase (DPYS) Gene.

Int J Mol Sci 2016 Jan 12;17(1). Epub 2016 Jan 12.

Laboratory Genetic Metabolic Diseases, Academic Medical Center, Amsterdam 1105 AZ, The Netherlands.

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http://dx.doi.org/10.3390/ijms17010086DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4730329PMC
January 2016

Clinical relevance of DPYD variants c.1679T>G, c.1236G>A/HapB3, and c.1601G>A as predictors of severe fluoropyrimidine-associated toxicity: a systematic review and meta-analysis of individual patient data.

Lancet Oncol 2015 Dec 23;16(16):1639-50. Epub 2015 Oct 23.

Department of Clinical Pharmacology, Netherlands Cancer Institute, Amsterdam, Netherlands; Division of Molecular Pathology, Netherlands Cancer Institute, Amsterdam, Netherlands; Division of Pharmacoepidemiology and Clinical Pharmacology, Department of Pharmaceutical Sciences, Faculty of Science, Utrecht University, Utrecht, Netherlands. Electronic address:

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http://www.thelancet.com/pdfs/journals/lanonc/PIIS1470-2045(
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http://linkinghub.elsevier.com/retrieve/pii/S147020451500286
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http://dx.doi.org/10.1016/S1470-2045(15)00286-7DOI Listing
December 2015

Evaluation of an oral uracil loading test to identify DPD-deficient patients using a limited sampling strategy.

Br J Clin Pharmacol 2016 Mar 8;81(3):553-61. Epub 2016 Jan 8.

Department of Pharmacy, Isala Diaconessen Hospital, Meppel and Bethesda Hospital,Hoogeveen, The Netherlands.

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http://dx.doi.org/10.1111/bcp.12821DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4767209PMC
March 2016

Towards a test to predict 5-fluorouracil toxicity: Pharmacokinetic data for thymine and two sequential metabolites following oral thymine administration to healthy adult males.

Eur J Pharm Sci 2016 Jan 3;81:36-41. Epub 2015 Oct 3.

School of Pharmacy, The University of Queensland, PACE building, Cornwall St, Woolloongabba, QLD 4102, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ejps.2015.10.001DOI Listing
January 2016

Influence of metastatic disease on the usefulness of uracil pharmacokinetics as a screening tool for DPD activity in colorectal cancer patients.

Cancer Chemother Pharmacol 2015 Jul 10;76(1):47-52. Epub 2015 May 10.

Department of Pharmacy, Treant Healthgroup, Location Scheper, Scheper Hospital Emmen, Boermarkeweg 60, 7824 AA, Emmen, The Netherlands,

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http://link.springer.com/10.1007/s00280-015-2746-3
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http://dx.doi.org/10.1007/s00280-015-2746-3DOI Listing
July 2015

A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly.

JIMD Rep 2015 1;19:117-21. Epub 2015 Feb 1.

Department of Pediatric Neurology, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine, 158, Palyong-Ro, Masanhoiwon-Gu, Changwon city, Gyeongsangnam-DO, 630-522, Republic of Korea,

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http://dx.doi.org/10.1007/8904_2014_379DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4501230PMC
July 2015

Dihydropyrimidine dehydrogenase deficiency in two malaysian siblings with abnormal MRI findings.

Mol Syndromol 2014 Dec 25;5(6):299-303. Epub 2014 Sep 25.

Laboratory of Genetic Metabolic Diseasess, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1159/000366074DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4281573PMC
December 2014

Predicting 5-fluorouracil toxicity: DPD genotype and 5,6-dihydrouracil:uracil ratio.

Pharmacogenomics 2014 Sep;15(13):1653-66

Institute of Clinical Chemistry, Inselspital, Bern University Hospital, & University of Bern, INO-F, CH-3010 Bern, Switzerland.

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http://dx.doi.org/10.2217/pgs.14.126DOI Listing
September 2014

Role of human hypoxanthine guanine phosphoribosyltransferase in activation of the antiviral agent T-705 (favipiravir).

Mol Pharmacol 2013 Oct 1;84(4):615-29. Epub 2013 Aug 1.

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.).

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http://dx.doi.org/10.1124/mol.113.087247DOI Listing
October 2013

ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.

Biochim Biophys Acta 2012 Jul 14;1822(7):1096-108. Epub 2012 Apr 14.

Academic Medical Center, Emma Children's Hospital, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, 1105 AZ Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.bbadis.2012.04.001DOI Listing
July 2012

Cholestasis is associated with hepatic microvascular dysfunction and aberrant energy metabolism before and during ischemia-reperfusion.

Antioxid Redox Signal 2012 Oct 7;17(8):1109-23. Epub 2012 Jun 7.

Department of Experimental Surgery, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1089/ars.2011.4291DOI Listing
October 2012

Synergistic interaction between cisplatin and gemcitabine in neuroblastoma cell lines and multicellular tumor spheroids.

Cancer Lett 2012 Jun 17;319(1):23-30. Epub 2011 Dec 17.

Academic Medical Center, University of Amsterdam, Laboratory Genetic Metabolic Diseases, PO Box 22700, 1100 DE Amsterdam, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S03043835110076
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http://dx.doi.org/10.1016/j.canlet.2011.12.016DOI Listing
June 2012

SNPs and Haplotypes in DPYD and Outcome of Capecitabine-Letter.

Clin Cancer Res 2011 Sep 30;17(17):5837; author reply 5835-6. Epub 2011 Aug 30.

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http://dx.doi.org/10.1158/1078-0432.CCR-11-1258DOI Listing
September 2011

Promising effects of the 4HPR-BSO combination in neuroblastoma monolayers and spheroids.

Free Radic Biol Med 2011 Sep 23;51(6):1213-20. Epub 2011 Jun 23.

Laboratory of Genetic Metabolic Diseases and Department of Pediatrics/Emma Children's Hospital, Academic Medical Center, University of Amsterdam, 1100 DE Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.freeradbiomed.2011.06.019DOI Listing
September 2011

Pharmacokinetics of orally administered uracil in healthy volunteers and in DPD-deficient patients, a possible tool for screening of DPD deficiency.

Cancer Chemother Pharmacol 2011 Dec 18;68(6):1611-7. Epub 2011 May 18.

Department of Pharmacy, Scheper Hospital Emmen and Röpcke Zweers Hospital Hardenberg, Boermarkeweg 60, 7824 AA Emmen, The Netherlands.

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http://dx.doi.org/10.1007/s00280-011-1661-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3220818PMC
December 2011

Fenretinide induces mitochondrial ROS and inhibits the mitochondrial respiratory chain in neuroblastoma.

Cell Mol Life Sci 2010 Mar 26;67(5):807-16. Epub 2009 Nov 26.

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.

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http://link.springer.com/10.1007/s00018-009-0212-2
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http://dx.doi.org/10.1007/s00018-009-0212-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2824117PMC
March 2010

Cyclopentenyl cytosine has biological and anti-tumour activity, but does not enhance the efficacy of gemcitabine and radiation in two animal tumour models.

Int J Oncol 2009 Mar;34(3):813-9

Department of Radiation Oncology, Laboratory for Experimental Oncology and Radiobiology, Academic Medical Centre-University of Amsterdam, 1100 DE Amsterdam, The Netherlands.

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http://dx.doi.org/10.3892/ijo_00000207DOI Listing
March 2009

Detection of VDR gene ApaI and TaqI polymorphisms in patients with type 2 diabetes mellitus using PCR-RFLP method in a Turkish population.

J Diabetes Complications 2010 May-Jun;24(3):186-91. Epub 2009 Jan 30.

Faculty of Medicine, Department of Medical Biology, Harran University, Sanliurfa, Turkey.

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http://linkinghub.elsevier.com/retrieve/pii/S105687270800122
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http://dx.doi.org/10.1016/j.jdiacomp.2008.12.002DOI Listing
July 2010

Mycophenolate mofetil inhibits T-cell proliferation in kidney transplant recipients without lowering intracellular dGTP and GTP.

Transpl Int 2008 Nov;21(11):1066-71

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.

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http://dx.doi.org/10.1111/j.1432-2277.2008.00739.xDOI Listing
November 2008

Altered dihydropyrimidine dehydrogenase activity associated with mild toxicity in patients treated with 5-fluorouracil containing chemotherapy.

Nucleosides Nucleotides Nucleic Acids 2008 Jun;27(6):726-32

Emma Children's Hospital and Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://www.tandfonline.com/doi/abs/10.1080/15257770802145454
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http://dx.doi.org/10.1080/15257770802145454DOI Listing
June 2008

Pleiotropic effects of fenretinide in neuroblastoma cell lines and multicellular tumor spheroids.

Int J Oncol 2008 May;32(5):1011-9

Laboratory Genetic Metabolic Diseases and Department of Pediatrics/Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DE Amsterdam, The Netherlands.

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May 2008

Investigation of IVS14+ 1G > A polymorphism of DPYD gene in a group of Turkish patients with colorectal cancer.

Anticancer Res 2007 Nov-Dec;27(6B):3899-902

Department of General Surgery, Medicine Faculty, Harran University, Sanliurfa, Turkey.

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February 2008

Will cyclopentenyl cytosine (CPEC) ever have a future in the clinic?

Leuk Res 2008 Feb 6;32(2):201-2. Epub 2007 Aug 6.

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http://dx.doi.org/10.1016/j.leukres.2007.06.020DOI Listing
February 2008

Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency.

Mol Genet Metab 2007 Jun 26;91(2):157-64. Epub 2007 Mar 26.

Academic Medical Center, University of Amsterdam, Emma Children's Hospital, P.O. Box 22700, 1100 DE Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2007.02.008DOI Listing
June 2007

HPLC-electrospray tandem mass spectrometry for rapid determination of dihydropyrimidine dehydrogenase activity.

Clin Chem 2007 Mar 1;53(3):528-30. Epub 2007 Feb 1.

Emma Children's Hospital and Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1373/clinchem.2006.074096DOI Listing
March 2007

Increased dihydropyrimidine dehydrogenase activity associated with mild toxicity in patients treated with 5-fluorouracil and leucovorin.

Eur J Cancer 2007 Jan 13;43(2):459-65. Epub 2006 Nov 13.

Academic Medical Center, University of Amsterdam, Emma Children's Hospital and Department of Clinical Chemistry, P.O. Box 22700, 1100 DE Amsterdam, The Netherlands.

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http://linkinghub.elsevier.com/retrieve/pii/S095980490600851
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http://dx.doi.org/10.1016/j.ejca.2006.09.017DOI Listing
January 2007

Screening for dihydropyrimidine dehydrogenase deficiency: to do or not to do, that's the question.

Cancer Invest 2006 Mar;24(2):215-7

Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, Emma Children's Hospital, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1080/07357900500524702DOI Listing
March 2006

Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.

Ann Neurol 2005 Oct;58(4):649-52

Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.

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http://dx.doi.org/10.1002/ana.20615DOI Listing
October 2005

Cyclopentenyl cytosine-induced activation of deoxycytidine kinase increases gemcitabine anabolism and cytotoxicity in neuroblastoma.

Cancer Chemother Pharmacol 2006 Jan 5;57(1):105-13. Epub 2005 Nov 5.

Academic Medical Center, Department of Clinical Chemistry and Emma Children's Hospital, University of Amsterdam, 1100 Amsterdam, DE, The Netherlands.

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http://link.springer.com/10.1007/s00280-005-0005-8
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http://dx.doi.org/10.1007/s00280-005-0005-8DOI Listing
January 2006

Gene expression profiling in response to the histone deacetylase inhibitor BL1521 in neuroblastoma.

Exp Cell Res 2005 Oct;309(2):451-67

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.

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http://dx.doi.org/10.1016/j.yexcr.2005.06.024DOI Listing
October 2005

Antagonistic effects of sequential administration of BL1521, a histone deacetylase inhibitor, and gemcitabine to neuroblastoma cells.

Cancer Lett 2006 Feb;233(2):240-6

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.

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http://dx.doi.org/10.1016/j.canlet.2005.03.016DOI Listing
February 2006

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

Biol Chem 2005 Apr;386(4):319-24

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.

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http://dx.doi.org/10.1515/BC.2005.038DOI Listing
April 2005

Determination of thymidine phosphorylase activity by a non-radiochemical assay using reversed-phase high-performance liquid chromatography.

J Chromatogr B Analyt Technol Biomed Life Sci 2005 Jun;820(2):271-275

Academic Medical Center, University of Amsterdam, Emma Children's Hospital and Department of Clinical Chemistry, 1100 DE Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.jchromb.2005.04.009DOI Listing
June 2005

Histone deacetylase inhibitor BL1521 induces a G1-phase arrest in neuroblastoma cells through altered expression of cell cycle proteins.

FEBS Lett 2005 Feb;579(6):1523-8

Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, P.O. Box 22700, 1100 DE Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.febslet.2005.01.058DOI Listing
February 2005

Analysis of pyrimidine synthesis "de novo" intermediates in urine and dried urine filter- paper strips with HPLC-electrospray tandem mass spectrometry.

Clin Chem 2004 Nov 16;50(11):2117-24. Epub 2004 Sep 16.

Academic Medical Center, University of Amsterdam, Emma Children's Hospital and Departments of Clinical Chemistry, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1373/clinchem.2004.038869DOI Listing
November 2004

The novel histone deacetylase inhibitor BL1521 inhibits proliferation and induces apoptosis in neuroblastoma cells.

Biochem Pharmacol 2004 Oct;68(7):1279-88

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.

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http://dx.doi.org/10.1016/j.bcp.2004.05.010DOI Listing
October 2004

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

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

Academic Medical Center, University of Amsterdam, Emma Children's Hospital and Department of Clinical Chemistry, PO Box 22700, 1100 DE Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ejca.2003.12.004DOI Listing
May 2004

Quantification of 5,6-dihydrouracil by HPLC-electrospray tandem mass spectrometry.

Clin Chem 2004 Jan;50(1):236-8

Academic Medical Center, University of Amsterdam, Emma Children's Hospital and Department of Clinical Chemistry, PO Box 22700, 1100 DE Amsterdam, The Netherlands.

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http://dx.doi.org/10.1373/clinchem.2003.026229DOI Listing
January 2004