A.B.P. van Kuilenburg PhD publications

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Publications PhD A.B.P. van Kuilenburg

Position
MD-PhD
Main activities
Patient care, Research
Specialisation
Clinical Biochemical Geneticist
Focus of research

The main lines of research are:

  • Inborn errors of purine and pyrimidine metabolism.
  • Pharmacogenetic consequences of defects of the pyrimidine degradation pathway.
  • Biochemical aspects of pediatric oncological diseases

Background and aim of research theme

Inborn errors of pyrimidine metabolism and the pharmacogenetic consequences
Inborn errors of purine and pyrimidine metabolism are associated with a broad spectrum of clinical abnormalities including anemia, immunodeficiency, nephrolithiasis, convulsions, autism and psychomotor retardation. Pyrimidine nucleotides are essential for a vast number of biological processes such as the synthesis of RNA, DNA, phospholipids, glycogen and the sialylation and glycosylation of proteins. There is, however, an increased awareness that pyrimidines play an important role in the regulation of the central nervous system and that metabolic changes affecting the levels of pyrimidines may lead to abnormal neurological activity. Patients with a defect in one of the enzymes of the pyrimidine degradation pathway often present with a neurological disorder but a considerable phenotypic variability has been reported among these patients. In addition, the same defects can lead to severe life-threatening toxicities when (partially) deficient individuals are treated with the pyrimidine analogue 5-fluorouracil. To date, the pathological mechanism underlying the various clinical abnormalities is not known. The main goal of our research is to elucidate the role of enzymes of purine and pyrimidine metabolism and the altered homeostatis of substrates and products in health and disease.

 

Biochemical and clinical aspects of neuroblastoma

Neuroblastoma is derived from precursor cells of the sympathetic nervous system and it is the most common extracranial solid tumour of childhood. The prognosis for children suffering from neuroblastoma is highly dependent on the age at diagnosis and the stage of the disease. Patients suffering from metastasized neuroblastoma with amplification of the MYCN oncogene, which is found in approximately 20% of primary, predominantly metastasized neuroblastomas, have a very poor prognosis with a survival rate of approximately 10-25%.
The clinical diversity of neuroblastoma correlates with several characteristic molecular features observed in neuroblastoma, including amplification of the MYCN oncogene and activation of the phosphoinositide 3-kinase (PI3K)/Akt pathway]. However, patients with the same risk assessment, and thus receiving the same treatment, can have markedly different clinical courses. Therefore, the identification of more specific and sensitive markers for response to therapy and outcome prediction is required.

Signal transduction pathways associated with cancer progression and chemotherapeutic resistance are increasingly being investigated as molecular targets of chemotherapy. There is now compelling evidence that the PI3K/Akt pathway plays an important role in regulating the bioavailability of key-proteins, such as N-myc in neuroblastoma. Therefore, inhibition of the PI3K/Akt pathway in neuroblastoma might be accompanied by profound effects on cell proliferation and viability neuroblastoma cells. In addition, PI3K inhibitors might increase the efficacy of chemotherapeutic drugs which are currently being used in the treatment of neuroblastoma. The discovery that many cancer-related pathways have profound effects on metabolism and that many tumors become dependent on specific metabolic processes has boosted interest in targeting cancer metabolism as a promising therapeutic rationale. There are currently several drugs under development or in clinical trials that are based on specifically targeting the altered metabolic pathways in tumours. To date, little is known about the impact of MYCN and the PI3K/Akt pathway on the metabolic profile in neuroblastoma.

In 90-95% of neuroblastoma patients, the urinary concentrations of catecholamines and their metabolites are strongly elevated and provide an important non-invasive diagnostic tool for diagnosis, during treatment and at follow up. To date, different types of catecholamines and/or their metabolites, such as vanillylmandelic acid (VMA) and homovanillic acid (HVA) are being used for diagnosis and follow-up of neuroblastoma patients. However, conflicting data are available regarding their diagnostic sensitivity and their significance with respect to clinical outcome. Only sporadic data is available for the other catecholamines and their metabolites with respect to clinical and genetic characteristics.
 

The main goal of our research is

  • To develop new and effective therapeutic strategies using inhibitors of the PI3K pathway.
  • Characterization of the metabolic profile of neuroblastoma cell lines to identify key-metabolites and key-pathways, in particular those associated with MYCN amplification and PI3K/Akt signaling. These the metabolic profile might reveal new therapeutic targets.
  • To identify the optimal panel of catecholamines, metanephrines and phenolic acids for the diagnosis and prognosis of patients with a neuroblastoma.
  • To investigate the genetic mechanisms that are associated with catecholamine excretion profiles in neuroblastoma

 

2021

  • Lenherr Nina, Christodoulou John, Duley John, Dobritzsch Doreen, Fairbanks Lynette, Datta Alexandre N., Filges Isabel, Gürtler Nicolas, Roelofsen Jeroen, van Kuilenburg André B. P., Kemper Claudia, West Erin E., Szinnai Gabor, Huemer Martina Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency) Molecular genetics and metabolism reports 2021;26

2020

  • Puusepp Sanna, Reinson Karit, Pajusalu Sander, van Kuilenburg André B. P., Dobritzsch Doreen, Roelofsen Jeroen, Stenzel Werner, Õunap Katrin Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene Molecular genetics and metabolism reports 2020;25 [PubMed]
  • Eskes Eline C. B., Sjouke Barbara, Vaz Frédéric M., Goorden Susan M. I., van Kuilenburg André B. P., Aerts Johannes M. F. G., Hollak Carla E. M. Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers Molecular genetics and metabolism 2020;130 (1):16-26 [PubMed]
  • van der Veen Sanne J., Hollak Carla E. M., van Kuilenburg André B. P., Langeveld Mirjam Developments in the treatment of Fabry disease Journal of inherited metabolic disease 2020;43 (5):908-921 [PubMed]
  • Beerepoot Shanice, van Dooren Silvy J. M., Salomons Gajja S., Boelens Jaap Jan, Jacobs Edwin H., van der Knaap Marjo S., van Kuilenburg André B. P., Wolf Nicole I. Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients Neurogenetics 2020;21 (4):289-299 [PubMed]
  • van der Veen Sanne J., Vlietstra Wytze J., van Dussen Laura, van Kuilenburg André B. P., Dijkgraaf Marcel G. W., Lenders Malte, Brand Eva, Wanner Christoph, Hughes Derralynn, Elliott Perry M., Hollak Carla E. M., Langeveld Mirjam Predicting the development of anti-drug antibodies against recombinant alpha-galactosidase a in male patients with classical fabry disease International journal of molecular sciences 2020;21 (16):1-14 [PubMed]
  • Blom Thomas, Meinsma Rutger, Rutgers Marja, Buitenhuis Corine, Dekken-van den Burg Marieke, van Kuilenburg André B. P., Tytgat Godelieve A. M. Selective serotonin reuptake inhibitors (SSRIs) prevent meta-iodobenzylguanidine (MIBG) uptake in platelets without affecting neuroblastoma tumor uptake EJNMMI research 2020;10 (1) [PubMed]
  • Botros Liza, Szulcek Robert, Jansen Samara M. A., Kurakula Kondababu, Goumans Marie-Jose T. H., van Kuilenburg Andre B. P., Noordegraaf Anton Vonk, de Man Frances S., Aman Jurjan, Bogaard Harm Jan The effects of mercaptopurine on pulmonary vascular resistance and bmpr2 expression in pulmonary arterial hypertension American journal of respiratory and critical care medicine 2020;202 (2):296-299 [PubMed]

2019

  • Henricks Linda M., Lunenburg Carin A. T. C., de Man Femke M., Meulendijks Didier, Frederix Geert W. J., Kienhuis Emma, Creemers Geert-Jan, Baars Arnold, Dezentjé Vincent O., Imholz Alexander L. T., Jeurissen Frank J. F., Portielje Johanna E. A., Jansen Rob L. H., Hamberg Paul, ten Tije Albert J., Droogendijk Helga J., Koopman Miriam, Nieboer Peter, van de Poel Marlène H. W., Mandigers Caroline M. P. W., Rosing Hilde, Beijnen Jos H., van Werkhoven Erik, van Kuilenburg André B. P., van Schaik Ron H. N., Mathijssen Ron H. J., Swen Jesse J., Gelderblom Hans, Cats Annemieke, Guchelaar Henk-Jan, Schellens Jan H. M. A cost analysis of upfront DPYD genotype–guided dose individualisation in fluoropyrimidine-based anticancer therapy European journal of cancer (Oxford, England 2019;107:60-67 [PubMed]
  • Stautemas Jan, van Kuilenburg André B. P., Stroomer Lida, Vaz Fred, Blancquaert Laura, Lefevere Filip B. D., Everaert Inge, Derave Wim Acute aerobic exercise leads to increased plasma levels of R-and S-β-aminoisobutyric acid in humans Frontiers in physiology 2019;10 (SEP) [PubMed]
  • van der Veen S. J., van Kuilenburg A. B. P., Hollak C. E. M., Kaijen P. H. P., Voorberg J., Langeveld M. Antibodies against recombinant alpha-galactosidase A in Fabry disease: Subclass analysis and impact on response to treatment Molecular genetics and metabolism 2019;126 (2):162-168 [PubMed]
  • Verly I. R. N., Leen R., Meinsma J. R., Hooijer G. K. J., Savci-Heijink C. D., van Nes J., Broekmans M., Wanders R. J. A., van Kuilenburg A. B. P., Tytgat G. A. M. Catecholamine excretion profiles identify clinical subgroups of neuroblastoma patients European journal of cancer (Oxford, England 2019;111:21-29 [PubMed]
  • Verly Iedan R. N. Catecholamine metabolites in neuroblastoma patients 2019. 192p. ISBN 9789463755627. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Wanders R. J. A. , Pieters R.; Co-supervisors: van Kuilenburg A. B. P. , Tytgat G. A. M.)
  • Pérez-Torras Sandra, Mata-Ventosa Aida, Drögemöller Britt, Tarailo-Graovac Maja, Meijer Judith, Meinsma Rutger, van Cruchten Arno G, Kulik Wim, Viel-Oliva Albert, Bidon-Chanal Axel, Ross Colin J, Wassermann Wyeth W, van Karnebeek Clara D M, Pastor-Anglada Marçal, van Kuilenburg André B P Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 2019;1865 (6):1182-1191 [PubMed]
  • Lunenburg C. A. T. C., Henricks L. M. , van Kuilenburg A. B. P. , Mathijssen R. H. J., Schellens J. H. M., Gelderblom A. J., Guchelaar H.-J., Swen J. J. Diagnostische en therapeutische strategie voor fluoropyrimidines bij patiënten die meerdere DPYD varianten dragen Nederlands tijdschrift voor oncologie 2019;16 (3):109-114
  • van Kuilenburg André B P, Meijer Judith, Meinsma Rutger, Pérez-Dueñas Belén, Alders Marielle, Bhuiyan Zahurul A, Artuch Rafael, Hennekam Raoul C M Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1 JIMD reports 2019;45:65-69 [PubMed]
  • Milanese Chiara, Bombardieri C. ntia R., Sepe Sara, Barnhoorn Sander, Payán-Goméz C. sar, Caruso Donatella, Audano Matteo, Pedretti Silvia, Vermeij Wilbert P., Brandt Renata M. C., Gyenis Akos, Wamelink Mirjam M., de Wit Annelieke S., Janssens Roel C., Leen René, van Kuilenburg André B. P., Mitro Nico, Hoeijmakers Jan H. J., Mastroberardino Pier G. DNA damage and transcription stress cause ATP-mediated redesign of metabolism and potentiation of anti-oxidant buffering Nature communications 2019;10 (1):4887 [PubMed]
  • van Kuilenburg A. B. P., Tarailo-Graovac M., Richmond P. A., Drögemöller B. I., Pouladi M. A., Leen R., Brand-Arzamendi K., Dobritzsch D., Dolzhenko E., Eberle M. A., Hayward B., Jones M. J., Karbassi F., Kobor M. S., Koster J., Kumari D., Li M., MacIsaac J., McDonald C., Meijer J., Nguyen C., Rajan-Babu I. S., Scherer S. W., Sim B., Trost B., Tseng L. A., Turkenburg M., van Vugt J. J. F. A., Veldink J. H., Walia J. S., Wang Y., van Weeghel M., Wright G. E. B., Xu X., Yuen R. K. C., Zhang J., Ross C. J., Wasserman W. W., Geraghty M. T., Santra S., Wanders R. J. A., Wen X. Y., Waterham H. R., Usdin K., van Karnebeek C. D. M. Glutaminase deficiency caused by short tandem repeat expansion in GLS New England journal of medicine 2019;380 (15):1433-1441 [PubMed]
  • van Kuilenburg André B. P., Usdin Karen, van Karnebeek Clara D. M. Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS. Reply New England journal of medicine 2019;381 (12):1185 [PubMed]
  • Aldosari Mohammed H., de Vries Robert P., Rodriguez Lucia R., Hesen Nienke A., Beztsinna Nataliia, van Kuilenburg André B. P., Hollak Carla E. M., Schellekens Huub, Mastrobattista Enrico Liposome-targeted recombinant human acid sphingomyelinase: Production, formulation, and in vitro evaluation European journal of pharmaceutics and biopharmaceutics 2019;137:185-195 [PubMed]
  • van der Pluijm Marieke, Sutterland Arjen L, van Kuilenburg André B P, Zoetekouw Lida, de Haan Lieuwe, Booij Jan, van de Giessen Elsmarieke Plasma dopa decarboxylase activity in treatment-resistant recent-onset psychosis patients Therapeutic advances in psychopharmacology 2019;9 [PubMed]
  • Barco Sebastiano, Verly Iedan, Corrias Maria Valeria, Sorrentino Stefania, Conte Massimo, Tripodi Gino, Tytgat Godelieve, van Kuilenburg André, van der Ham Maria, de Sain-van der Velden Monique, Garaventa Alberto, Cangemi Giuliana Plasma free metanephrines for diagnosis of neuroblastoma patients Clinical biochemistry 2019;66:57-62 [PubMed]
  • Wanders Ronald J. A., Vaz Frederic M., Ferdinandusse Sacha, van Kuilenburg André B. P., Kemp Stephan, van Karnebeek Clara D., Waterham Hans R., Houtkooper Riekelt H. Translational Metabolism: A multidisciplinary approach towards precision diagnosis of inborn errors of metabolism in the omics era Journal of inherited metabolic disease 2019;42 (2):197-208 [PubMed]

2018

  • Verly I. R. N., van Kuilenburg A. B. P., Abeling N. G. G. M., Goorden S. M. I., Fiocco M., Vaz F. M., van Noesel M. M., Zwaan C. M., Kaspers G. J. L., Merks J. H. M., Caron H. N., Tytgat G. A. M. 3-Methoxytyramine: An independent prognostic biomarker that associates with high-risk disease and poor clinical outcome in neuroblastoma patients European journal of cancer (Oxford, England 2018;90:102-110 [PubMed]
  • Arends Maarten, Biegstraaten Marieke, Wanner Christoph, Sirrs Sandra, Mehta Atul, Elliott Perry M., Oder Daniel, Watkinson Oliver T., Bichet Daniel G., Khan Aneal, Iwanochko Mark, Vaz Frédéric M., van Kuilenburg André B. P., West Michael L., Hughes Derralynn A., Hollak Carla E. M. Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study Journal of medical genetics 2018;55:351-358 [PubMed]
  • Henricks Linda M., Siemerink Ester J. M., Rosing Hilde, Meijer Judith, Goorden Susan M. I., Polstra Abeltje M., Zoetekouw Lida, Cats Annemieke, Schellens Jan H. M., van Kuilenburg André B. P. Capecitabine-based treatment of a patient with a novel DPYD genotype and complete dihydropyrimidine dehydrogenase deficiency International journal of cancer. Journal international du cancer 2018;142 (2):424-430 [PubMed]
  • Lunenburg Carin A. T. C., Henricks Linda M., van Kuilenburg André B. P., Mathijssen Ron H. J., Schellens Jan H. M., Gelderblom Hans, Guchelaar Henk-Jan, Swen Jesse J. Diagnostic and therapeutic strategies for fluoropyrimidine treatment of patients carrying multiple DPYD variants Genes 2018;9 (12) [PubMed]
  • Henricks Linda M., Lunenburg Carin A. T. C., de Man Femke M., Meulendijks Didier, Frederix Geert W. J., Kienhuis Emma, Creemers Geert-Jan, Baars Arnold, Dezentjé Vincent O., Imholz Alexander L. T., Jeurissen Frank J. F., Portielje Johanna E. A., Jansen Rob L. H., Hamberg Paul, ten Tije Albert J., Droogendijk Helga J., Koopman Miriam, Nieboer Peter, van de Poel Marlène H. W., Mandigers Caroline M. P. W., Rosing Hilde, Beijnen Jos H., Werkhoven Erik van, van Kuilenburg André B. P., van Schaik Ron H. N., Mathijssen Ron H. J., Swen Jesse J., Gelderblom Hans, Cats Annemieke, Guchelaar Henk-Jan, Schellens Jan H. M. DPYD genotype-guided dose individualisation of fluoropyrimidine therapy in patients with cancer: a prospective safety analysis lancet oncology 2018;19 (11):1459-1467
  • Henricks L. M., Lunenburg C. A. T. C., de Man F. M., Meulendijks D., Frederix G. W. J., Kienhuis E., Creemers G. J. M., Baars A., Dezentjé V. O., Rosing H., Beijnen J. H., van Werkhoven E., van Kuilenburg A. B. P., van Schaik R. H. N., Mathijssen R. H. J., Swen J. J., Gelderblom H., Cats A., Guchelaar H. J., Schellens J. H. M. DPYD genotype-guided dose individualization of fluoropyrimidine therapy: A prospective safety and cost-analysis on DPYD variants DPYD*2A, c.2846A>T, c.1679T>G and c.1236G>A Annals of oncology 2018;29:viii150 [PubMed]
  • van Kuilenburg André B. P., Tarailo-Graovac Maja, Meijer Judith, Drogemoller Britt, Vockley Jerry, Maurer Dirk, Dobritzsch Doreen, Ross Colin J., Wasserman Wyeth, Meinsma Rutger, Zoetekouw Lida, van Karnebeek Clara D. M. 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 Human mutation 2018;39 (7):947-953 [PubMed]
  • Duley John A., Ni Ming, Shannon Catherine, Norris Ross L., Sheffield Leslie, Cowley David, Harris Marion, van Kuilenburg André B. P., Helsby Nuala, George Rani, Charles Bruce G. Preliminary evidence for enhanced thymine absorption: A putative new phenotype associated with fluoropyrimidine toxicity in cancer patients Therapeutic drug monitoring 2018;40 (4):495-502 [PubMed]
  • Voorink-Moret M., Goorden S. M. I., van Kuilenburg A. B. P., Wijburg F. A., Ghauharali-van der Vlugt J. M. M., Beers-Stet F. S., Zoetekouw A., Kulik W., Hollak C. E. M., Vaz F. M. Rapid screening for lipid storage disorders using biochemical markers Expert center data and review of the literature Molecular genetics and metabolism 2018;123 (2):76-84 [PubMed]
  • van Golen Rowan F., Olthof Pim B., de Haan Lianne R., Coelen Robert J., Pechlivanis Alexandros, de Keijzer Mark J., Weijer Ruud, de Waart Dirk R., van Kuilenburg André B. P., Roelofsen Jeroen, Gilijamse Pim W., Maas Martinus A., Lewis Matthew R., Nicholson Jeremy K., Verheij Joanne, Heger Michal The pathophysiology of human obstructive cholestasis is mimicked in cholestatic Gold Syrian hamsters BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 2018;1864 (3):942-951 [PubMed]

2017

  • Verly Iedan R. N., van Kuilenburg André B. P., Abeling Nico G. G. M., Goorden Susan M. I., Fiocco Marta, Vaz Frédéric M., van Noesel Max M., Zwaan C. Michel, Kaspers Gertjan L., Merks Johannes H. M., Caron Huib N., Tytgat Godelieve A. M. Catecholamines profiles at diagnosis: Increased diagnostic sensitivity and correlation with biological and clinical features in neuroblastoma patients European journal of cancer (Oxford, England 2017;72:235-243 [PubMed]
  • Writzl Karin, Maver Ales, Kovačič Lidija, Martinez-Valero Paula, Contreras Laura, Satrustegui Jorgina, Castori Marco, Faivre Laurence, Lapunzina Pablo, van Kuilenburg André B. P., Radović Slobodanka, Thauvin-Robinet Christel, Peterlin Borut, del Arco Araceli, Hennekam Raoul C. De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise American journal of human genetics 2017;101 (5):844-855 [PubMed]
  • Nakajima Yoko, Meijer Judith, Dobritzsch Doreen, Ito Tetsuya, Zhang Chunhua, Wang Xu, Watanabe Yoriko, Tashiro Kyoko, Meinsma Rutger, Roelofsen Jeroen, Zoetekouw Lida, van Kuilenburg André B. P. Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity Molecular genetics and metabolism 2017;122 (4):216-222 [PubMed]
  • Fleger M., Willomitzer J., Meinsma R., Alders M., Meijer J., Hennekam R. C. M., Huemer M., van Kuilenburg A. B. P. Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype? JIMD reports 2017;37:49-54 [PubMed]
  • Arends Maarten, Wijburg Frits A., Wanner Christoph, Vaz Frédéric M., van Kuilenburg André B. P., Hughes Derralynn A., Biegstraaten Marieke, Mehta Atul, Hollak Carla E. M., Langeveld Mirjam Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease Molecular genetics and metabolism 2017;121 (2):157-161 [PubMed]
  • Bertholee Daphne, Maring Jan Gerard, van Kuilenburg André B. P. Genotypes Affecting the Pharmacokinetics of Anticancer Drugs Clinical pharmacokinetics 2017;56 (4):317-337 [PubMed]
  • Reiniers Megan J., Olthof Pim B., van Golen Rowan F., Heger Michal, van Beek Adriaan A., Meijer Ben, Leen René, van Kuilenburg André B. P., Mearadji Banafsche, Bennink Roelof J., Verheij Joanne, van Gulik Thomas M. Hypothermic perfusion with retrograde outflow during right hepatectomy is safe and feasible Surgery 2017;162 (1):48-58 [PubMed]
  • Skrunes Rannveig, Tøndel Camilla, Leh Sabine, Larsen Kristin Kampevold, Houge Gunnar, Davidsen Einar Skulstad, Hollak Carla, van Kuilenburg André B. P., Vaz Frédéric M., Svarstad Einar Long-Term Dose-Dependent Agalsidase Effects on Kidney Histology in Fabry Disease Clinical journal of the American Society of Nephrology 2017;12 (9):1470-1479 [PubMed]
  • Weijer Ruud, Clavier Séverine, Zaal Esther A., Pijls Maud M. E., van Kooten Robert T., Vermaas Klaas, Leen René, Jongejan Aldo, Moerland Perry D., van Kampen Antoine H. C., van Kuilenburg André B. P., Berkers Celia R., Lemeer Simone, Heger Michal Multi-OMIC profiling of survival and metabolic signaling networks in cells subjected to photodynamic therapy Cellular and molecular life sciences 2017;74 (6):1133-1151 [PubMed]
  • Etienne-Grimaldi Marie-Christine, Boyer Jean-Christophe, Beroud Christophe, Mbatchi Litaty, van Kuilenburg André, Bobin-Dubigeon Christine, Thomas Fabienne, Chatelut Etienne, Merlin Jean-Louis, Pinguet Frédéric, Ferrand Christophe, Meijer Judith, Evrard Alexandre, Llorca Laurence, Romieu Gilles, Follana Philippe, Bachelot Thomas, Chaigneau Loic, Pivot Xavier, Dieras Véronique, Largillier Rémy, Mousseau Mireille, Goncalves Anthony, Roché Henri, Bonneterre Jacques, Servent Véronique, Dohollou Nadine, Château Yann, Chamorey Emmanuel, Desvignes Jean-Pierre, Salgado David, Ferrero Jean-Marc, Milano Gérard New advances in DPYD genotype and risk of severe toxicity under capecitabine PLoS ONE 2017;12 (5):e0175998 [PubMed]
  • Porrmann Joseph, Betcheva-Krajcir Elitza, Di Donato Nataliya, Kahlert Anne-Karin, Schallner Jens, Rump Andreas, Schröck Evelin, Dobritzsch Doreen, Roelofsen Jeroen, van Kuilenburg André B. P., Tzschach Andreas Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies American journal of medical genetics. Part A 2017;173A (10):2736-2742 [PubMed]
  • Danesi R., del Re M., Ciccolini J., Schellens J. H. M., Schwab M., van Schaik R. H. N., van Kuilenburg A. B. P. Prevention of fluoropyrimidine toxicity: do we still have to try our patient's luck? Annals of oncology 2017;28 (1):183 [PubMed]
  • Arends Maarten, Biegstraaten Marieke, Hughes Derralynn A., Mehta Atul, Elliott Perry M., Oder Daniel, Watkinson Oliver T., Vaz Frédéric M., van Kuilenburg André B. P., Wanner Christoph, Hollak Carla E. M. Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors PLoS ONE 2017;12 (8):e0182379 [PubMed]
  • van Kuilenburg André B. P., Meijer Judith, Mauer Dirk, Dobritzsch Doreen, Meinsma Rutger, Los Maartje, Knegt Lia C., Zoetekouw Lida, Jansen Rob L. H., Dezentjé Vincent, van Huis-Tanja Lieke H., van Kampen Roel J. W., Hertz Jens Michael, Hennekam Raoul C. M. Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 2017;1863 (3):721-730 [PubMed]
  • Henricks Linda M., Kienhuis Emma, de Man Femke M., van der Veldt Astrid A. M., Hamberg Paul, van Kuilenburg André B. P., van Schaik Ron H. N., Lunenburg Carin A. T. C., Guchelaar Henk-Jan, Schellens Jan H. M., Mathijssen Ron H. J. Treatment algorithm for homozygous or compound heterozygous DPYD variant allele carriers with low-dose capecitabine JCO Precision Oncology 2017;2017 (1):1-10
  • Lines Matthew A., Ito Yoko, Kernohan Kristin D., Mears Wendy, Hurteau-Miller Julie, Venkateswaran Sunita, Ward Leanne, Khatchadourian Karine, McClintock Jeff, Bhola Priya, Campeau Philippe M., Boycott Kym M., Michaud Jean, van Kuilenburg André Bp, Ferdinandusse Sacha, Dyment David A. Yunis-Varón syndrome caused by biallelic VAC14 mutations European journal of human genetics 2017;25 (9):1049-1054 [PubMed]

2016

  • Nakajima Yoko, Meijer Judith, Zhang Chunhua, Wang Xu, Kondo Tomomi, Ito Tetsuya, Dobritzsch Doreen, van Kuilenburg André B. P. Altered Pre-mRNA Splicing Caused by a Novel Intronic Mutation c.1443+5G>A in the Dihydropyrimidinase (DPYS) Gene International journal of molecular sciences 2016;17 (1):E86 [PubMed]
  • Karamat Fares A., Oudman Inge, Haan Yentl C., van Kuilenburg Andre B. P., Leen Rene, Danser Jan A. H., Leijten Frank P. J., Ris-Stalpers Carrie, van Montfrans Gert A., Clark Joseph F., Brewster Lizzy M. Creatine kinase inhibition lowers systemic arterial blood pressure in spontaneously hypertensive rats: a randomized controlled trial Journal of hypertension 2016;34 (12):2418-2426 [PubMed]
  • Schänzer A., Faas D., Rust S., Podskarbi T., van Kuilenburg A. B. P., Scarpa M., Kunze A., Marquardt T., Hahn A. Distinctly Elevated Chitotriosidase Activity in a Child with Congenital Andersen Disease (Glycogen Storage Disease Type IV) Deutlich erhöhte Chitotriosidase Aktivität bei einem Kind mit kongenitalem Morbus Anderson (Glykogenspeicherkrankung Typ IV) Klinische Padiatrie 2016;228 (5):277-279 [PubMed]
  • Begieneman Mark P. V., ter Horst Ellis N., Rijvers Liza, Meinster Elisa, Leen René, Pankras Jeannette E., Fritz Jan, Kubat Bela, Musters René J. P., van Kuilenburg André B. P., Stap Jan, Niessen Hans W. M., Krijnen Paul A. J. Dopamine induces lipid accumulation, NADPH oxidase-related oxidative stress, and a proinflammatory status of the plasma membrane in H9c2 cells American journal of physiology. Heart and circulatory physiology 2016;311 (5):H1097-H1107 [PubMed]
  • van Staveren Maurice C. DPD screening to prevent toxicity in fluoropyrimidine treated patients 2016. 165p. ISBN 9789492026101. [UvA Dissertations Online] Leiden University: Clinical Pharmacy and Toxicology. (Supervisors: Guchelaar H.-J., Gelderblom A. J.; Co-supervisors: Maring J. G., van Kuilenburg A. B. P.)
  • van Staveren Maurice C., van Kuilenburg Andre B. P., Guchelaar Henk-Jan, Meijer Judith, Punt Cornelis J. A., de Jong Robert S., Gelderblom Hans, Maring Jan Gerard Evaluation of an oral uracil loading test to identify DPD-deficient patients using a limited sampling strategy British journal of clinical pharmacology 2016;81 (3):553-561 [PubMed]
  • Regenboog Martine, van Kuilenburg André B. P., Verheij Joanne, Swinkels Dorine W., Hollak Carla E. M. Hyperferritinemia and iron metabolism in Gaucher disease: Potential pathophysiological implications Blood reviews 2016;30 (6):431-437 [PubMed]
  • Meulendijks Didier, Henricks Linda M., van Kuilenburg André B. P., Jacobs Bart A. W., Aliev Abidin, Rozeman Lisette, Meijer Judith, Beijnen Jos H., de Graaf Hiltje, Cats Annemieke, Schellens Jan H. M. Patients homozygous for DPYD c.1129-5923C>G/haplotype B3 have partial DPD deficiency and require a dose reduction when treated with fluoropyrimidines Cancer chemotherapy and pharmacology 2016;78 (4):875-880 [PubMed]
  • van Kuilenburg André B. P., Meijer Judith, Tanck Michael W. T., Dobritzsch Doreen, Zoetekouw Lida, Dekkers Lois-Lee, Roelofsen Jeroen, Meinsma Rutger, Wymenga Machteld, Kulik Wim, Büchel Barbara, Hennekam Raoul C. M., Largiadèr Carlo R. Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 2016;1862 (4):754-762 [PubMed]
  • Meinsma R., van Kuilenburg A. B. P. Purification, activity, and expression levels of two uridine-cytidine kinase isoforms in neuroblastoma cell lines Nucleosides, nucleotides & nucleic acids 2016;35 (10-12):613-618 [PubMed]
  • de Sain-van der Velden M. G. M., Jans J. J., Figee M., Engelen M., Prinsen H. C. M. T., Verhoeven-Duif N. M., van Kuilenburg A. B. P., Visser G., Vinkers C. H. Stofwisselingsziekten binnen de psychiatrie Tijdschrift voor psychiatrie 2016;58 (5):402-406 [PubMed]
  • Sarkisjan Dzjemma, Julsing Joris R., Smid Kees, de Klerk Daniël, van Kuilenburg André B. P., Meinsma Rutger, Lee Young B., Kim Deog J., Peters Godefridus J. The Cytidine Analog Fluorocyclopentenylcytosine (RX-3117) Is Activated by Uridine-Cytidine Kinase 2 PLoS ONE 2016;11 (9):e0162901 [PubMed]
  • van Kuilenburg André B. P., Meinsma Rutger The pivotal role of uridine-cytidine kinases in pyrimidine metabolism and activation of cytotoxic nucleoside analogues in neuroblastoma BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 2016;1862 (9):1504-1512 [PubMed]
  • Duley John A., Ni Ming, Shannon Catherine, Norris Ross L., Sheffield Lesley, Harris Marion, van Kuilenburg Andre B. P., Mead Scott, Cameron Andrew, Helsby Nuala, George Rani, Charles Bruce G. Towards a test to predict 5-fluorouracil toxicity: Pharmacokinetic data for thymine and two sequential metabolites following oral thymine administration to healthy adult males European journal of pharmaceutical sciences 2016;81:36-41 [PubMed]

2015

  • Lee Jun Hwa, van Kuilenburg André B. P., Abeling N. G. G. M., Vasta Valeria, Hahn Si Houn A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly JIMD reports 2015;19:117-121 [PubMed]
  • Meulendijks Didier, Henricks Linda M., Sonke Gabe S., Deenen Maarten J., Froehlich Tanja K., Amstutz Ursula, Largiadèr Carlo R., Jennings Barbara A., Marinaki Anthony M., Sanderson Jeremy D., Kleibl Zdenek, Kleiblova Petra, Schwab Matthias, Zanger Ulrich M., Palles Claire, Tomlinson Ian, Gross Eva, van Kuilenburg André B. P., Punt Cornelis J. A., Koopman Miriam, Beijnen Jos H., Cats Annemieke, Schellens Jan H. M. 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 oncology 2015;16 (16):1639-1650 [PubMed]
  • van Kuilenburg A. B. P., Etienne-Grimaldi M.-C., Mahamat A., Meijer J., Laurent-Puig P., Olschwang S., Gaub M.-P., Hennekam R. C. M., Benchimol D., Houry S., Letoublon C., Gilly F.-N., Pezet D., Andre T., Faucheron J.-L., Abderrahim-Ferkoune A., Vijzelaar R., Pradere B., Milano G. Frequent intragenic rearrangements of DPYD in colorectal tumours pharmacogenomics journal 2015;15 (3):211-218 [PubMed]
  • van Staveren Maurice C., Opdam Frans, Guchelaar Henk-Jan, van Kuilenburg André B. P., Maring Jan Gerard, Gelderblom Hans Influence of metastatic disease on the usefulness of uracil pharmacokinetics as a screening tool for DPD activity in colorectal cancer patients Cancer chemotherapy and pharmacology 2015;76 (1):47-52 [PubMed]
  • Brodszki Nicholas, Svensson Maria, van Kuilenburg André B. P., Meijer Judith, Zoetekouw Lida, Truedsson Lennart, Toporski Jacek Novel Genetic Mutations in the First Swedish Patient with Purine Nucleoside Phosphorylase Deficiency and Clinical Outcome After Hematopoietic Stem Cell Transplantation with HLA-Matched Unrelated Donor JIMD reports 2015;24:83-89 [PubMed]
  • Al-Maawali Almundher, Dupuis Lucie, Blaser Susan, Heon Elise, Tarnopolsky Mark, Al-Murshedi Fathiya, Marshall Christian R., Paton Tara, Scherer Stephen W., Roelofsen Jeroen, van Kuilenburg André B. P., Mendoza-Londono Roberto, Boycott Kym, Friedman Jan, Michaud Jacques, Bernier Francois, Brudno Michael, Fernandez Bridget, Knoppers Bartha, Samuels Mark, Scherer Steve, Marcadier Janet, Beaulieu Chandree Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders European journal of human genetics 2015;23 (3):310-316 [PubMed]
  • Leuzzi Vincenzo, Mastrangelo Mario, Polizzi Agata, Artiola Cristiana, van Kuilenburg André B. P., Carducci Carla, Ruggieri Martino, Barone Rita, Tavazzi Barbara, Abeling Nico G. G. M., Zoetekouw Lida, Sofia Vito, Zappia Mario, Carducci Claudia Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype? JIMD reports 2015;15:39-45 [PubMed]
  • van Kuilenburg A. B. P. Screening for dihydropyrimidine dehydrogenase deficiency to prevent severe fluoropyrimidine-associated toxicity Belgian Journal of Medical Oncology 2015;9 (3):95-98

2014

  • Nakajima Yoko, Meijer Judith, Dobritzsch Doreen, Ito Tetsuya, Meinsma Rutger, Abeling Nico G. G. M., Roelofsen Jeroen, Zoetekouw Lida, Watanabe Yoriko, Tashiro Kyoko, Lee Tomoko, Takeshima Yasuhiro, Mitsubuchi Hiroshi, Yoneyama Akira, Ohta Kazuhide, Eto Kaoru, Saito Kayoko, Kuhara Tomiko, van Kuilenburg André B. P. Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation Journal of inherited metabolic disease 2014;37 (5):801-812 [PubMed]
  • Chen Bee Chin, Mohd Rawi Rowani, Meinsma Rutger, Meijer Judith, Hennekam Raoul C. M., van Kuilenburg André B. P. Dihydropyrimidine Dehydrogenase Deficiency in Two Malaysian Siblings with Abnormal MRI Findings Molecular syndromology 2014;5 (6):299-303 [PubMed]
  • Nakajima Yoko, Meijer Judith, Dobritzsch Doreen, Ito Tetsuya, Meinsma Rutger, Abeling Nico G. G. M., Roelofsen Jeroen, Zoetekouw Lida, Watanabe Yoriko, Tashiro Kyoko, Lee Tomoko, Takeshima Yasuhiro, Mitsubuchi Hiroshi, Yoneyama Akira, Ohta Kazuhide, Eto Kaoru, Saito Kayoko, Kuhara Tomiko, van Kuilenburg André B. P. Erratum to: Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation Journal of inherited metabolic disease 2014;37 (6):1023 [PubMed]
  • van Staveren M. C., Jan Guchelaar H., van Kuilenburg A. B. P., Gelderblom H., Maring J. G. Evaluation of predictive tests for screening for dihydropyrimidine dehydrogenase deficiency pharmacogenomics journal 2014;14 (4):400 [PubMed]
  • Cuperus Roosmarijn Modulation of fenretinide induced cell death in neuroblastoma 2014. 162p. ISBN 9789090284538. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Caron H. N.; Co-supervisors: van Kuilenburg A. B. P., Tytgat G. A. M.)
  • Sistonen Johanna, Büchel Barbara, Froehlich Tanja K., Kummer Dominic, Fontana Stefano, Joerger Markus, van Kuilenburg André B. P., Largiadèr Carlo R. Predicting 5-fluorouracil toxicity: DPD genotype and 5,6-dihydrouracil:uracil ratio Pharmacogenomics 2014;15 (13):1653-1666 [PubMed]
  • Meijer J., Nakajima Y., Zhang C., Meinsma R., Ito T., van Kuilenburg A. B. P. Publisher's note. Identification of a novel synonymous mutation in the human β-ureidopropionase gene UPB1 affecting pre-mRNA splicing Nucleosides, nucleotides & nucleic acids 2014;33 (4-6):253-260 [PubMed]
  • Synofzik Matthis, Müller Vom Hagen Jennifer, Haack Tobias B., Wilhelm Christian, Lindig Tobias, Beck-Wödl Stefanie, Nabuurs Sander B., van Kuilenburg André B. P., de Brouwer Arjan P. M., Schöls Ludger X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation Orphanet journal of rare diseases 2014;9 (1):24 [PubMed]

2013

  • Gross E., van Kuilenburg André B. P. Dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicityin: Sherry X. Yang, Janet E. Dancey, editors. Handbook of Therapeutic Biomarkers in Cancer. S.l.: Pan Standford Publishing Pte.; 2013. p. 337-351, ISBN 9789814364669; 9789814364652
  • van Kuilenburg André Bp, Maring Jan Gerard Evaluation of 5-fluorouracil pharmacokinetic models and therapeutic drug monitoring in cancer patients Pharmacogenomics 2013;14 (7):799-811 [PubMed]
  • van Staveren M. C., Jan Guchelaar H., van Kuilenburg A. B. P., Gelderblom H., Maring J. G. Evaluation of predictive tests for screening for dihydropyrimidine dehydrogenase deficiency pharmacogenomics journal 2013;13 (5):389-395 [PubMed]
  • Seinen M. L., van Bodegraven A. A., van Kuilenburg A. B. P., de Boer N. K. H. High TPMT activity as a risk factor for severe myelosuppression during thiopurine therapy Netherlands journal of medicine 2013;71 (4):222-223 [PubMed]
  • Aslami Hamid, Pulskens Wilco P., Kuipers Maria T., Bos Aafkeline P., van Kuilenburg André B. P., Wanders Ronald J. A., Roelofsen Jeroen, Roelofs Joris J. T. H., Kerindongo Raphaela P., Beurskens Charlotte J. P., Schultz Marcus J., Kulik Wim, Weber Nina C., Juffermans Nicole P. Hydrogen sulfide donor NaHS reduces organ injury in a rat model of pneumococcal pneumosepsis, associated with improved bio-energetic status PLoS ONE 2013;8 (5):e63497 [PubMed]
  • Meijer J., Nakajima Y., Zhang C., Meinsma R., Ito T., van Kuilenburg A. B. P. IDENTIFICATION OF A NOVEL SYNONYMOUS MUTATION IN THE HUMAN beta-UREIDOPROPIONASE GENE UPB1 AFFECTING PRE-mRNA SPLICING Nucleosides, nucleotides & nucleic acids 2013;32 (12):639-645 [PubMed]
  • Kamatani Naoyuki, Jinnah H. A., Hennekam Raoul C.M., van Kuilenburg André B.P. Purine and pyrimidine metabolismin: Emery and Rimoin's Principles and Practice of Medical Genetics. Elsevier Ltd; 2013. p. 1-38, ISBN 9780123838346
  • Kamatani Naoyuki, Jinnah H. A., Hennekam Raoul C. M., van Kuilenburg André B. P. Purine and pyrimidine metabolismin: D. Rimoin, R. Pyeritz, B. Korf, editors. Emery & Rimoin's Principles and Practice of Medical Genetics, 6th edition. S.l.: Elsevier Science Publishing; 2013. p. 1-38, ISBN 9780123838353
  • Naesens Lieve, Guddat Luke W., Keough Dianne T., van Kuilenburg André B. P., Meijer Judith, Vande Voorde Johan, Balzarini Jan Role of human hypoxanthine guanine phosphoribosyltransferase in activation of the antiviral agent T-705 (favipiravir) Molecular pharmacology 2013;84 (4):615-629 [PubMed]
  • van Kuilenburg A. B. P., Ferdinandusse S., Wanders R. J. A. Screening for dihydropyrimidine dehydrogenase deficiency to prevent severe 5-fluorouracil and capeciatbine-associated toxicity Nederlands tijdschrift voor klinische chemie en laboratoriumgeneeskunde 2013;38:202-205
  • Van Kuilenburg A. B.P., Ferdinandusse S., Wanders R. J.A. Screening for dihydropyrimidine dehydrogenase deficiency to prevent severe 5-fluorouracil and capecitabine-associated toxicity Nederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde 2013;38 (4):202-205
  • Geelen Joyce, Pfundt Rolph, Meijer Judith, Verheijen Frans W., van Kuilenburg Andre B. P., Warris Adilia, Marcelis Carlo Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy Journal of allergy and clinical immunology 2013;132 (1):222-223 [PubMed]
  • Gross E., Meul C., Raab S., Propping C., Avril S., Aubele M., Gkazepis A., Schuster T., Grebenchtchikov N., Schmitt M., Kiechle M., Meijer J., Vijzelaar R., Meindl A., van Kuilenburg A. B. P. Somatic copy number changes in DPYD are associated with lower risk of recurrence in triple-negative breast cancers British journal of cancer 2013;109 (9):2347-2355 [PubMed]

2012

  • van Kuilenburg André B. P., Dobritzsch Doreen, Meijer Judith, Krumpel Michael, Selim Laila A., Rashed Mohamed S., Assmann Birgit, Meinsma Rutger, Lohkamp Bernhard, Ito Tetsuya, Abeling Nico G. G. M., Saito Kayoko, Eto Kaoru, Smitka Martin, Engvall Martin, Zhang Chunhua, Xu Wang, Zoetekouw Lida, Hennekam Raoul C. M. beta-Ureidopropionase deficiency: Phenotype, genotype and protein structural consequences in 16 patients BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 2012;1822 (7):1096-1108 [PubMed]
  • Kloek Jaap J., Maréchal Xavier, Roelofsen Jeroen, Houtkooper Riekelt H., van Kuilenburg André B. P., Kulik Willem, Bezemer Rick, Nevière Rémi, van Gulik Thomas M., Heger Michal Cholestasis is associated with hepatic microvascular dysfunction and aberrant energy metabolism before and during ischemia-reperfusion Antioxidants & redox signaling 2012;17 (8):1109-1123 [PubMed]
  • van Kuilenburg André B. P., Häusler Peter, Schalhorn Andreas, Tanck Michael W. T., Proost Johannes H., Terborg Christoph, Behnke Detlev, Schwabe Wolfgang, Jabschinsky Kati, Maring Jan Gerard 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 Clinical pharmacokinetics 2012;51 (3):163-174 [PubMed]
  • Beurskens Charlotte J. P., Aslami Hamid, Kuipers Maria T., Horn Janneke, Vroom Margreeth B., van Kuilenburg André B. P., Roelofs Joris J. T. H., Schultz Marcus J., Juffermans Nicole P. Induced hypothermia is protective in a rat model of pneumococcal pneumonia associated with increased adenosine triphosphate availability and turnover Critical care medicine 2012;40 (3):919-926 [PubMed]
  • Balzarini Jan, Gago Federico, Kulik Wim, van Kuilenburg André B. P., Karlsson Anna, Peterson Matt A., Robins Morris J. Introduction of a Fluorine Atom at C3 of 3-Deazauridine Shifts Its Antimetabolic Activity from Inhibition of CTP Synthetase to Inhibition of Orotidylate Decarboxylase, an Early Event in the de Novo Pyrimidine Nucleotide Biosynthesis Pathway Journal of biological chemistry 2012;287 (36):30444-30454 [PubMed]
  • Kulik Wim, van Kuilenburg André B. P. Metabolomics using UPLC/HPLC-Tandem Mass Spectrometry in diagnosis and research of inherited metabolic diseasesin: Sergio Caroli, Gyula Zaray, editors. Analytical Techniques for Clinical Chemistry : Methods and Applications. Hoboken, NJ: John Wiley & Sons, Inc; 2012. p. 535-554, ISBN 9780470445273
  • Moran Rocio, van Kuilenburg André B. P., Duley John, Nabuurs Sander B., Retno-Fitri Aditia, Christodoulou John, Roelofsen Jeroen, Yntema Helger G., Friedman Neil R., van Bokhoven Hans, de Brouwer Arjan P. M. Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I American journal of medical genetics. Part A 2012;158A (2):455-460 [PubMed]
  • Besançon Odette G., Tytgat Godelieve A. M., Meinsma Rutger, Leen René, Hoebink Jerry, Kalayda Ganna V., Jaehde Ulrich, Caron Huib N., van Kuilenburg André B. P. Synergistic interaction between cisplatin and gemcitabine in neuroblastoma cell lines and multicellular tumor spheroids Cancer letters 2012;319 (1):23-30 [PubMed]

2011

  • Weidensee Sabine, Goettig Peter, Bertone Marko, Haas Dorothea, Magdolen Viktor, Kiechle Marion, Meindl Alfons, van Kuilenburg André B. P., Gross Eva A mild phenotype of dihydropyrimidine dehydrogenase deficiency and developmental retardation associated with a missense mutation affecting cofactor binding Clinical biochemistry 2011;44 (8-9):722-724 [PubMed]
  • van Staveren Maurice C., Theeuwes-Oonk Barbara, Guchelaar Henk Jan, van Kuilenburg André B. P., Maring Jan Gerard Pharmacokinetics of orally administered uracil in healthy volunteers and in DPD-deficient patients, a possible tool for screening of DPD deficiency Cancer chemotherapy and pharmacology 2011;68 (6):1611-1617 [PubMed]
  • Becquemont Laurent, Alfirevic Ana, Amstutz Ursula, Brauch Hiltrud, Jacqz-Aigrain Evelyne, Laurent-Puig Pierre, Molina Miguel A., Niemi Mikko, Schwab Matthias, Somogyi Andrew A., Thervet Eric, Maitland-van der Zee Anke-Hilse, van Kuilenburg André B. P., van Schaik Ron H. N., Verstuyft Céline, Wadelius Mia, Daly Ann K. Practical recommendations for pharmacogenomics-based prescription: 2010 ESF-UB Conference on Pharmacogenetics and Pharmacogenomics Pharmacogenomics 2011;12 (1):113-124 [PubMed]
  • Cuperus Roos, van Kuilenburg André B. P., Leen René, Bras Johannes, Caron Huib N., Tytgat Godelieve A. M. Promising effects of the 4HPR-BSO combination in neuroblastoma monolayers and spheroids Free radical biology & medicine 2011;51 (6):1213-1220 [PubMed]
  • Rosen A., van Kuilenburg A., Assmann B., Kuhlen M., Borkhardt A. Severe encephalopathy, lactic acidosis, vegetative instability and neuropathy with 5-Fluorouracil treatment - pyrimidine degradation defect or beriberi? Case reports in oncology 2011;4 (2):371-376 [PubMed]
  • van Kuilenburg André B. P., Largiadèr Carlo R. SNPs and Haplotypes in DPYD and Outcome of Capecitabine-Letter Clinical cancer research 2011;17 (17):5837; author reply 5835-5837; author reply 5836 [PubMed]

2010

  • Pols Thijs W. H., Bonta Peter I., Pires Nuno M. M., Otermin Iker, Vos Mariska, de Vries Margreet R., van Eijk Marco, Roelofsen Jeroen, Havekes Louis M., Quax Paul H. A., van Kuilenburg André B. P., de Waard Vivian, Pannekoek Hans, de Vries Carlie J. M. 6-Mercaptopurine Inhibits Atherosclerosis in Apolipoprotein E*3-Leiden Transgenic Mice Through Atheroprotective Actions on Monocytes and Macrophages Arteriosclerosis, thrombosis, and vascular biology 2010;30 (8):1591-1597 [PubMed]
  • Rodermond Hans M., ten Cate Rosemarie, Haveman Jaap, van Kuilenburg Andre, Medema Jan Paul, van Bree Chris, Franken Nicolaas A. P. Cyclopentenylcytosine does not enhance cisplatin-induced radiosensitization in human lung tumour cells Oncology letters 2010;1 (3):537-540 [PubMed]
  • Dilmec Fuat, Uzer Elmas, Akkafa Feridun, Kose Elif, van Kuilenburg André B. P. Detection of VDR gene ApaI and TaqI polymorphisms in patients with type 2 diabetes mellitus using PCR-RFLP method in a Turkish population Journal of diabetes and its complications 2010;24 (3):186-191 [PubMed]
  • van Kuilenburg A. B. P., Zoetekouw L., Meijer J., Kuijpers T. W. Determination of adenosine deaminase activity in dried blood spots by a nonradiochemical assay using reversed-phase high-performance liquid chromatography Nucleosides, nucleotides & nucleic acids 2010;29 (4):461-465 [PubMed]
  • van Kuilenburg André B. P., Dobritzsch Doreen, Meijer Judith, Meinsma Rutger, Benoist Jean-François, Assmann Birgit, Schubert Susanne, Hoffmann Georg F., Duran Marinus, de Vries Maaike C., Kurlemann Gerd, Eyskens François J. M., Greed Lawrence, Sass Jörn Oliver, Schwab K. Otfried, Sewell Adrian C., Walter John, Hahn Andreas, Zoetekouw Lida, Ribes Antonia, Lind Suzanne, Hennekam Raoul C. M. Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 2010;1802 (7-8):639-648 [PubMed]
  • van Kuilenburg A. B. P., Meijer J., Gokcay G., Baykal T., Rubio-Gozalbo M. E., Mul A. N. P. M., de Die-Smulders C. E. M., Weber P., Mori A. Capone, Bierau J., Fowler B., Macke K., Sass J. O., Meinsma R., Hennermann J. B., Miny P., Zoetekouw L., Roelofsen J., Vijzelaar R., Nicolai J., Hennekam R. C. M. Dihydropyrimidine Dehydrogenase Deficiency Caused by a Novel Genomic Deletion c.505_513del of DPYD Nucleosides, nucleotides & nucleic acids 2010;29 (4):509-514 [PubMed]
  • van Staveren M. C., Maring J. G., van Kuilenburg A. B. P. DPD deficiëntie en 5FU en capecitabine gerelateerde bijwerkingen Oncologica 2010;2:42-44
  • Cuperus Roos, Leen René, Tytgat Godelieve A. M., Caron Huib N., van Kuilenburg André B. P. Fenretinide induces mitochondrial ROS and inhibits the mitochondrial respiratory chain in neuroblastoma Cellular and molecular life sciences 2010;67 (5):807-816 [PubMed]
  • van Kuilenburg A. B. P., Zoetekouw L., Meijer J., Kuijpers T. W. Identification of purine nucleoside phosphorylase deficiency in dried blood spots by a non-radiochemical assay using reversed-phase high-performance liquid chromatography Nucleosides, nucleotides & nucleic acids 2010;29 (4):466-470 [PubMed]
  • van Kuilenburg André B. P., Meijer Judith, Mul Adri N. P. M., Meinsma Rutger, Schmid Veronika, Dobritzsch Doreen, Hennekam Raoul C. M., Mannens Marcel M. A. M., Kiechle Marion, Etienne-Grimaldi Marie-Christine, Klümpen Heinz-Josef, Maring Jan Gerard, Derleyn Veerle A., Maartense Ed, Milano Gérard, Vijzelaar Raymon, Gross Eva Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity Human genetics 2010;128 (5):529-538 [PubMed]
  • Uzer E., Dilmec F., Akkafa F., Boduroglu O., van Kuilenburg A. B. P. Investigation of CTLA-4 and CD28 Gene Polymorphisms in Patients with Diabetes Mellitus Type 2 Using PCR-RFLP in a Turkish Population West Indian medical journal 2010;59 (3):235-240 [PubMed]
  • van Kuilenburg A., Hennekam R. C. M. Purine and Pyrimidine metabolism disturbances: worth looking for?in: Isabel Tavares de Almeida, Marinus Duran, editors. EMG Workshop Proceedings 2010. Lissabon: Milupa Metabolics GmbH, 61361, Friedrichsdorf, Germany; 2010. p. 11-16, ISBN 9783981310610

2009

  • van Kuilenburg André B. P., Meijer Judith, Mul Adri N. P. M., Hennekam Raoul C. M., Hoovers Jan M. N., de Die-Smulders Christine E. M., Weber Peter, Mori Andrea Capone, Bierau Jörgen, Fowler Brian, Macke Klaus, Sass Jörn Oliver, Meinsma Rutger, Hennermann Julia B., Miny Peter, Zoetekouw Lida, Vijzelaar Raymon, Nicolai Joost, Ylstra Bauke, Rubio-Gozalbo M. Estela 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) Human genetics 2009;125 (5-6):581-590 [PubMed]
  • van Kuilenburg André B. P., van Gennip Albert H. Beta-Alanine-alpha-Ketoglutarate Aminotransferase Deficiencyin: Florian Lang, editors. Encyclopedia of molecular mechanisms of disease. Berlin; Heidelberg: Springer; 2009. p. 53-54, ISBN 9783540671367
  • van Kuilenburg André B. P., van Gennip Albert H. Beta-Aminoisobutyrate-Pyruvate Aminotransferase Deficiencyin: Florian Lang, editors. Encyclopedia of molecular mechanisms of disease. Berlin; Heidelberg: Springer; 2009. p. 71-72, ISBN 9783540671367
  • van Kuilenburg André B. P., van Gennip Albert H. Beta-Ureidopropionase Deficiencyin: Florian Lang, editors. Encyclopedia of molecular mechanisms of disease. Berlin; Heidelberg: Springer; 2009. p. 2141-2141, ISBN 9783540671367
  • van Bree Chris, Barten-van Rijbroek Angeliqué D., Leen René, Rodermond Hans M., van Kuilenburg André B. P., Kal Henk B. Cyclopentenyl cytosine has biological and anti-tumour activity, but does not enhance the efficacy of gemcitabine and radiation in two animal tumour models International journal of oncology 2009;34 (3):813-819 [PubMed]
  • Dilmec Fuat, Ozgonul Abdullah, Akkafa Feridum, Uzunkoy Ali, van Kuilenburg Andre B. P. Determination of ApaI and TaqI Polymorphisms of VDR Gene in a Group of Turkish Patients with Colorectal Cancer International Journal of Hematology and Oncology = Uluslararasi Hematologji-Onkoloji Dergisi 2009;19 (1):18-22
  • van Kuilenburg André B. P., van Gennip Albert H. Dihydropyrimidinase Deficiencyin: Florian Lang, editors. Encyclopedia of molecular mechanisms of disease. Berlin; Heidelberg: Springer; 2009. p. 533-534, ISBN 9783540671367
  • van Kuilenburg André B. P., van Gennip Albert H. Dihydropyrimidine Dehydrogenase Deficiencyin: Florian Lang, editors. Encyclopedia of molecular mechanisms of disease. Berlin; Heidelberg: Springer; 2009. p. 534-535, ISBN 9783540671367
  • Van Staveren M. C., Van Kuilenburg A. B.P., Visser T., Maring J. G. Gevoeligheid en specificiteit van een orale uracilbelastingtest bij patiënten met normale DPD-activiteit en met DPD-deficiëntie Pharmaceutisch Weekblad 2009;144 (42):183-186
  • van Kuilenburg André B. P., van Gennip Albert H. Thymidine Phosphorylase Deficiencyin: Florian Lang, editors. Encyclopedia of molecular mechanisms of disease. Berlin; Heidelberg: Springer; 2009. p. 2068-2069, ISBN 9783540671367

2008

  • van Kuilenburg André B. P., Klumpen Heinz-Josef, Westermann Anneke M., Zoetekouw Lida, Bakker Piet J. M., Guchelaar Henk-Jan, Richel Dick J. Altered dihydropyrimidine dehydrogenase activity associated with mild toxicity in patients treated with 5-fluorouracil containing chemotherapy Nucleosides, nucleotides & nucleic acids 2008;27 (6):726-732 [PubMed]
  • van Kuilenburg A. B. P., Stroomer A. E. M., Bosch A. M., Duran M. Beta-alanine and beta-aminoisobutyric acid levels in two siblings with dihydropyrimidinase deficiency Nucleosides, nucleotides & nucleic acids 2008;27 (6):825-829 [PubMed]
  • Yaplito-Lee J., Pitt J., Meijer J., Zoetekouw L., Meinsma R., van Kuilenburg A. B. P. Beta-ureidopropionase deficiency presenting with congenital anomalies of the urogenital and colorectal systems Molecular genetics and metabolism 2008;93 (2):190-194 [PubMed]
  • van Bree C., Rodermond H. M., Leen R., Medema J. P., van Kuilenburg A. B. P. Cyclopentenyl cytosine increases gemcitabine radiosensitisation in human pancreatic cancer cells British journal of cancer 2008;98 (7):1226-1233 [PubMed]
  • Mazur Artur, Figurski Szymon, Płoskoń Anna, Meijer Judith, Zoetekouw Lida, Wątróbska Stanisława, Sykut-Cegielska Jolanta, Gradowska Wanda, van Kuilenburg André B. P. Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation in the first Polish patient Acta biochimica Polonica 2008;55 (4):787-790 [PubMed]
  • van Kuilenburg A. B. P., Meijer J., Dobritzsch D., Lohkamp B., Ruitenbeek W., Roelofsen J., Abeling N. G. G. M., Duran M., Buzing C. Identification of two novel mutations C79X and R235Q in the dihydropyrimidine dehydrogenase gene in a patient presenting with hematuria Nucleosides, nucleotides & nucleic acids 2008;27 (6):809-815 [PubMed]
  • van Kuilenburg Andre, de Abreu Ronney In memoriam: Albert van Gennip (1943-2007) Nucleosides, nucleotides & nucleic acids 2008;27 (6):557-558 [PubMed]
  • Uzunkoy Ali, Dilmec Fuat, Ozgonul Abdullah, van Kuilenburg Andre B. P., Akkafa Feridun Investigation of IVS14+ 1G > A polymorphism of DPYD gene in a group of Turkish patients with colorectal cancer Anticancer research 2008;27 (6B):3899-3902 [PubMed]
  • Sankatsing Sanjay U. C., Prins Jan M., Yong Si-La L., Roelofsen Jeroen, van Kuilenburg André B. P., Kewn Steve, Back David J., Bemelman Frederike J., ten Berge Ineke J. M. Mycophenolate mofetil inhibits T-cell proliferation in kidney transplant recipients without lowering intracellular dGTP and GTP Transplant international 2008;21 (11):1066-1071 [PubMed]
  • de Boer Nanne K. H., van Bodegraven Adriaan A., de Graaf Peer, van der Hulst Rene W. M., Zoetekouw Lida, van Kuilenburg André B. P. Paradoxical elevated thiopurine S-methyltransferase activity after pancytopenia during azathioprine therapy: potential influence of red blood cell age Therapeutic drug monitoring 2008;30 (3):390-393 [PubMed]
  • van Kuilenburg A. B. P., Maring J. G., Schalhorn A., Terborg C., Schmalenberg H., Behnke D., Schwabe W., Jabschinsky K., Hausler P. Pharmacokinetics of 5-fluorouracil in patients heterozygous for the IVS14+1G > A mutation in the dihydropyrimidine dehydrogenase gene Nucleosides, nucleotides & nucleic acids 2008;27 (6):692-698 [PubMed]
  • Cuperus Roos, Tytgat Godelieve A. M., Leen René, Brites Pedro, Bras Johannes, Caron Huib N., van Kuilenburg André B. P. Pleiotropic effects of fenretinide in neuroblastoma cell lines and multicellular tumor spheroids International journal of oncology 2008;32 (5):1011-1019 [PubMed]
  • Schimmel Kirsten, van Lenthe Henk, Leen Rene, Kulik Willem, Verschuur Arnauld, Guchelaar Henk-Jan, van Kuilenburg André Quantitative analysis of the experimental cytotoxic drug cyclopentenyl cytosine and its metabolite in plasma with HPLC tandem mass spectrometry Biomedical chromatography 2008;22 (12):1368-1373 [PubMed]
  • van Kuilenburg André B. P., van Cruchten Arno, Abeling Nico G. G. M. Screening for Disorders of Purine and Pyrimidine Metabolism Using HPLC-Electrospray Tandem Mass Spectrometryin: Nenad Blau, Marinus Duran, Michael K. Gibson, editors. Laboratory Guide to the Methods in Biochemical Genetics. S.l.: Springer; 2008. p. 725-739, ISBN 9783540766971
  • van Bree Chris, van Kuilenburg André B. P. Will cyclopentenyl cytosine (CPEC) ever have a future in the clinic? Leukemia research 2008;32 (2):201-202 [PubMed]

2007

  • de Brouwer Arjan P. M., Williams Kelly L., Duley John A., van Kuilenburg Andre B. P., Nabuurs Sander B., Egmont-Petersen Michael, Lugtenberg Dorien, Zoetekouw Lida, Banning Martijn J. G., Roeffen Melissa, Hamel Ben C. J., Weaving Linda, Ouvrier Robert A., Donald Jennifer A., Wevers Ron A., Christodoulou John, van Bokhoven Hans Arts syndrome is caused by loss-of-function mutations in PRPS1 American journal of human genetics 2007;81 (3):507-518 [PubMed]
  • van Kuilenburg Andre B. P., Meijer Judith, Dobritzsch Doreen, Meinsma Rutger, Duran Marinus, Lohkamp Bernhard, Zoetekouw Lida, Abeling Nico G. G. M., van Tinteren Herman L. G., Bosch Annet M. Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency Molecular genetics and metabolism 2007;91 (2):157-164 [PubMed]
  • van Kuilenburg Andre B. P., van Lenthe Henk, Zoetekouw Lida, Kulik Willem HPLC-electrospray tandem mass spectrometry for rapid determination of dihydropyrimidine dehydrogenase activity Clinical chemistry 2007;53 (3):528-530 [PubMed]
  • Duran M., Abeling N. G. G. M., van Kuilenburg A. B. P., Wanders R. J. A., Waterham H. R. Inborn Errors of Metabolismin: J. van Pelt, D.C.W. Poland, editors. Clinical Chemistry behind the Dykes. Utrecht: Netherlands Society for Clinical Chemistry and Laboratory Medicine (NVKC); 2007. p. 113-126, ISBN 9789076014166
  • van Kuilenburg André B. P., Klumpen Heinz-Josef, Westermann Anneke M., Zoetekouw Lida, van Lenthe Henk, Bakker Piet J. M., Richel Dick J., Guchelaar Henk-Jan Increased dihydropyrimidine dehydrogenase activity associated with mild toxicity in patients treated with 5-fluorouracil and leucovorin European journal of cancer (Oxford, England 2007;43 (2):459-465 [PubMed]

2006

  • Van Kuilenburg A. B.P., Van Lenthe H., Van Gennip A. H. Activity of pyrimidine degradation enzymes in normal tissues Nederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde 2006;31 (3):215-216
  • van Kuilenburg A. B. P., van Lenthe H., van Gennip A. H. Activity of pyrimidine degradation enzymes in normal tissues Nucleosides, nucleotides & nucleic acids 2006;25 (9-11):1211-1214 [PubMed]
  • van Kuilenburg A. B. P., van Lenthe H., van Gennip A. H. Activity of pyrimidine degradation enzymes in normal tissues Nederlands tijdschrift voor klinische chemie en laboratoriumgeneeskunde 2006;31 (3):215-216
  • Van Kuilenburg A. B.P., Van Lenthe H., Löffler M., Van Gennip A. M. Analysis of pyrimidine synthesis de novo intermediates in urine and dried urine filter-paper strips with HPLC-electrospray tandem mass spectrometry Nederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde 2006;31 (3):216-218
  • van Kuilenburg A. B. P., van Maldegem B. T., Abeling N. G. G. M., Wijburg F. A., Duran M. Analysis of pyrimidine synthesis de novo intermediates in urine during crisis of a patient with ornithine transcarbamylase deficiency Nucleosides, nucleotides & nucleic acids 2006;25 (9-11):1251-1255 [PubMed]
  • Brussel W., van Kuilenburg A. B. P., Janssens P. M. W. A neonate with recurrent vomiting and generalized hypotonia diagnosed with a deficiency of dihydropyrimidine dehydrogenase Nucleosides, nucleotides & nucleic acids 2006;25 (9-11):1099-1102 [PubMed]
  • de Ruijter Annemieke J. M., Leen René, Hoebink Jerry, Caron Huib N., van Kuilenburg André B. P. Antagonistic effects of sequential administration of BL1521, a histone deacetylase inhibitor, and gemcitabine to neuroblastoma cells Cancer letters 2006;233 (2):240-246 [PubMed]
  • van Kuilenburg A. B. P., Stroomer A. E. M., Abeling N. G. G. M., van Gennip A. H. A pivotal role for beta-aminoisobutyric acid and oxidative stress in dihydropyrimidine dehydrogenase deficiency? Nucleosides, nucleotides & nucleic acids 2006;25 (9-11):1103-1106 [PubMed]
  • Assmann Birgit E., van Kuilenburg Andre B. P., Distelmaier Felix, Abeling Nico G. G. M., Rosenbaum Thorsten, Schaper Jörg, Duran Marinus, Mayatepek Ertan Beta-ureidopropionase deficiency presenting with febrile status epilepticus Epilepsia 2006;47 (1):215-217 [PubMed]
  • Assmann B., Göhlich G., Baethmann M., Wevers R. A., van Gennip A. H., van Kuilenburg A. B. P., Dietrich C., Wagner L., Rotteveel J. J., Schaper J., Mayatepek E., Hoffmann G. F., Voit T. Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency Neuropediatrics 2006;37 (1):20-25 [PubMed]
  • Bierau Jörgen, van Gennip Albert H., Leen René, Meinsma Rutger, Caron Huib N., van Kuilenburg André B. P. Cyclopentenyl cytosine-induced activation of deoxycytidine kinase increases gemcitabine anabolism and cytotoxicity in neuroblastoma Cancer chemotherapy and pharmacology 2006;57 (1):105-113 [PubMed]
  • van Kuilenburg A. B. P., van Lenthe H., Maring J. G., van Gennip A. H. Determination of 5-fluorouracil in plasma with HPLC-tandem mass spectrometry Nucleosides, nucleotides & nucleic acids 2006;25 (9-11):1257-1260 [PubMed]
  • Van Kuilenburg A. B.P., Van Lenthe H., Maring J. G., Van Gennip A. H. Determination of 5-fluorouracil in plasma with HPLC-tandem mass spectrometry Nederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde 2006;31 (3):218-219
  • Van Kuilenburg A. B.P., Zoetekouw L. Determination of thymidine phosphorylase activity by a non-radiochemical assay using reversed-phase high-performance liquid chromatography Nederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde 2006;31 (3):219-220
  • van Kuilenburg A. B. P., Zoetekouw L. Determination of thymidine phosphorylase activity in human blood cells and fibroblasts by a nonradiochemical assay using reversed-phase high-performance liquid chromatography Nucleosides, nucleotides & nucleic acids 2006;25 (9-11):1261-1264 [PubMed]
  • van Kuilenburg A. B. P., Meinsma R., Assman B., Hoffman G. F., Voit T., Ribes A., Lorente I., Busch R., Mayatepek E., Abeling N. G. G. M., Wevers R. A., Rutsch F., van Gennip A. H. Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency Nucleosides, nucleotides & nucleic acids 2006;25 (9-11):1093-1098 [PubMed]
  • van Kuilenburg André B. P. Screening for dihydropyrimidine dehydrogenase deficiency: to do or not to do, that's the question Cancer investigation 2006;24 (2):215-217 [PubMed]

2005

  • Schimmel Kirsten, Bennink Roel, de Bruin Kora, Leen Rene, Sand Karsten, van den Hoff Maurice, van Kuilenburg André, Vanderheyden Jean-Luc, Steinmetz Neil, Pfaffendorf Martin, Verschuur Arnauld, Guchelaar Henk-Jan Absence of cardiotoxicity of the experimental cytotoxic drug cyclopentenyl cytosine (CPEC) in rats Archives of toxicology 2005;79 (5):268-276 [PubMed]
  • Theeuwes-Oonk B. N., Maring J. G., Van Kuilenburg A. B.P. Bruikbaarheid van uracilbelastingstest voor fenotypering van dihydropyrimidinedehydrogenase Pharmaceutisch Weekblad 2005;140 (3):100-103
  • de Ruijter A. J. M. Characterization of the effects of a novel histone deacetylase inhibitor, BL1521, on neuroblastoma cells 2005. 136p. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Caron H. N.; Co-supervisor: van Kuilenburg A. B. P.)
  • van Kuilenburg André B. P., Zoetekouw Lida Determination of thymidine phosphorylase activity by a non-radiochemical assay using reversed-phase high-performance liquid chromatography Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 2005;820 (2):271-275 [PubMed]
  • Al-Sanna'a N. A., van Kuilenburg A. B. P., Atrak T. M., Abdul-Jabbar M. A., van Gennip A. H. Dihydropyrimidine dehydrogenase deficiency presenting at birth Journal of inherited metabolic disease 2005;28 (5):793-796 [PubMed]
  • van Kuilenburg A. B. P., Zoetekouw L. Erratum to "determination of thymidine phosphorylase activity by a non-radiochemical assay using reversed-phase high-performance liquid chromatography" (vol 820, pg 271, 2005) Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 2005;821 (2):245
  • de Ruijter Annemieke J. M., Meinsma Rutger J., Bosma Peter, Kemp Stephan, Caron Huib N., van Kuilenburg André B. P. Gene expression profiling in response to the histone deacetylase inhibitor BL1521 in neuroblastoma Experimental cell research 2005;309 (2):451-467 [PubMed]
  • Ouwehand Krista, de Ruijter Annemieke J. M., van Bree Chris, Caron Huib N., van Kuilenburg André B. P. Histone deacetylase inhibitor BL1521 induces a G1-phase arrest in neuroblastoma cells through altered expression of cell cycle proteins FEBS letters 2005;579 (6):1523-1528 [PubMed]
  • van Kuilenburg André B. P., Meinsma Rutger, Beke Eva, Bobba Barbara, Boffi Patrizia, Enns Gregory M., Witt David R., Dobritzsch Doreen Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function Biological chemistry 2005;386 (4):319-324 [PubMed]
  • van Kuilenburg A. B. P., Meinsma R., Beke E., Bobba B., Boffi P., Enns G. M., Witt D. R., Dobritzsch D. Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function (vol 386, pg 319, 2005) Biological chemistry 2005;386 (10):1075
  • Martí Ramon, Verschuuren Jan J. G. M., Buchman Alan, Hirano Ikuo, Tadesse Saba, van Kuilenburg André B. P., van Gennip Albert H., Poorthuis Ben J. H. M., Hirano Michio Late-onset MNGIE due to partial loss of thymidine phosphorylase activity Annals of neurology 2005;58 (4):649-652 [PubMed]
  • Bierau J., van Kuilenburg A. B. P., van Gennip A. H. Nucleotide degrationin: N. N., editors. Encyclopedia of life sciences (eLS). Chichester: John Wiley & Sons Ltd; 2005. p. 1-x
  • Codacci-Pisanelli G., Pinedo H. M., Lankelma J., van Groeningen C. J., van Kuilenburg A. B. P., van Gennip A. H., Peters G. J. Pharmacokinetics of bolus 5-fluorouracil: Relationship between dose, plasma concentrations,, area-under-the-curve and toxicity Journal of chemotherapy (Florence, Italy) 2005;17 (3):315-320 [PubMed]

2004

  • van Kuilenburg André B. P., van Lenthe Henk, Löffler Monika, van Gennip Albert H. Analysis of pyrimidine synthesis "de novo" intermediates in urine and dried urine filter- paper strips with HPLC-electrospray tandem mass spectrometry Clinical chemistry 2004;50 (11):2117-2124 [PubMed]
  • van Kuilenburg André B. P., Meinsma Rutger, Beke Eva, Assmann Birgit, Ribes Antonia, Lorente Isabel, Busch Rebekka, Mayatepek Ertan, Abeling Nico G. G. M., van Cruchten Arno, Stroomer Alida E. M., van Lenthe Henk, Zoetekouw Lida, Kulik Willem, Hoffmann Georg F., Voit Thomas, Wevers Ron A., Rutsch Frank, van Gennip Albert H. beta-ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities Human molecular genetics 2004;13 (22):2793-2801 [PubMed]
  • Bierau J., van Gennip A. H., Leen R., Zoetekouw L., Caron H. N., van Kuilenburg A. B. P. Cyclopentenyl cytosine sensitises SK-N-BE(2)c neuroblastoma cells to cladribine Nederlands tijdschrift voor klinische chemie en laboratoriumgeneeskunde 2004;29:271-272
  • Bierau Jörgen, Leen René, van Gennip Albert H., Caron Huib N., van Kuilenburg André B. P. Determination of the deoxycytidine kinase activity in cell homogenates with a non-radiochemical assay using reversed-phase high performance liquid chromatography; Identification of a novel metabolite of 2-chlorodeoxyadenosine Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 2004;805 (2):339-346 [PubMed]
  • van Kuilenburg André B. P. Dihydropyrimidine dehydrogenase and the efficacy and toxicity of 5-fluorouracil European journal of cancer (Oxford, England 2004;40 (7):939-950 [PubMed]
  • Hooiveld E. A., van Kuilenburg A. B., Haanen J. B., Westermann A. M. Ernstige toxiciteit na behandeling met capecitabine en fluorouracil ten gevolge van een partiële dihydropyrimidine-dehydrogenasedeficiëntie Nederlands tijdschrift voor geneeskunde 2004;148 (13):626-628 [PubMed]
  • Enns G. M., Barkovich A. J., van Kuilenburg A. B. P., Manning M., Sanger T., Witt D. R., van Gennip A. H. Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency Journal of inherited metabolic disease 2004;27 (4):513-522 [PubMed]
  • Verschuur A. C., van Gennip A. H., Leen R., van Kuilenburg A. B. P. Increased cytotoxicity of 2',2'-difluoro-2'-deoxycytidine in human leukemic cell-lines after a preincubation with cyclopentenyl cytosine Nucleosides, nucleotides & nucleic acids 2004;23 (8-9):1517-1521 [PubMed]
  • van Kuilenburg André B. P., Stroomer Alida E. M., van Lenthe Henk, Abeling Nico G. G. M., van Gennip Albert H. New insights in dihydropyrimidine dehydrogenase deficiency: a pivotal role for beta-aminoisobutyric acid? Biochemical journal 2004;379 (Part 1):119-124 [PubMed]
  • Peters G. J., van Kuilenburg A. B. P., de Abreu R. A. Purine and Pyrimidine Metabolism: New challenges Nucleosides, nucleotides & nucleic acids 2004;23 (8-9):1077-1079 [PubMed]
  • van Kuilenburg A. B. P., Meinsma R., van Gennip A. H. Pyrimidine degradation defects and severe 5-fluorouracil toxicity Nucleosides, nucleotides & nucleic acids 2004;23 (8-9):1371-1375 [PubMed]
  • van Kuilenburg André B. P., van Lenthe Henk, van Cruchten Arno, Kulik Willem Quantification of 5,6-dihydrouracil by HPLC-electrospray tandem mass spectrometry Clinical chemistry 2004;50 (1):236-238 [PubMed]
  • de Ruijter Annemieke J. M., Kemp Stephan, Kramer Gertjan, Meinsma Rutger J., Kaufmann Judith O., Caron Huib N., van Kuilenburg André B. P. The novel histone deacetylase inhibitor BL1521 inhibits proliferation and induces apoptosis in neuroblastoma cells Biochemical pharmacology 2004;68 (7):1279-1288 [PubMed]

2003

  • van Kuilenburg A. B. P., van Gennip A. H. Authors' response to the editorial 'Duplicity doubles the workload and dilutes the scientific enterprise' Pharmacogenetics 2003;13 (5):303
  • de Abreu Ronney A., Trueworthy Robert C., van Kuilenburg André B. P., Vogels-Mentink Trude M., Lambooy Lambert H. J., van Gennip Albert H. Combination therapy in childhood leukaemia: in vitro studies of thiopurines and inhibitors of purine metabolism on apoptosis Annals of clinical biochemistry 2003;40 (Part 1):70-74 [PubMed]
  • Bierau Jörgen, van Gennip Albert H., Leen René, Helleman Jozien, Caron Huib N., van Kuilenburg André B. P. Cyclopentenyl cytosine primes SK-N-BE(2)c neuroblastoma cells for cytarabine toxicity International journal of cancer. Journal international du cancer 2003;103 (3):387-392 [PubMed]
  • van Kuilenburg André B. P., Meinsma Rutger, Zonnenberg Bernard A., Zoetekouw Lida, Baas Frank, Matsuda Koichi, Tamaki Nanaya, van Gennip Albert H. Dihydropyrimidinase deficiency and severe 5-fluorouracil toxicity Clinical cancer research 2003;9 (12):4363-4367 [PubMed]
  • Fiumara A., van Kuilenburg A. B. P., Caruso U., Nucifora C., Marzullo E., Barone R., Meli C., van Gennip A. H. Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation Journal of inherited metabolic disease 2003;26 (4):407-409 [PubMed]
  • van der Eb Marjolijn M., Geutskens Sacha B., van Kuilenburg André B. P., van Lenthe Henk, van Dierendonck Jan-Hein, Kuppen Peter J. K., van Ormondt Hans, van de Velde Cornelis J. H., Wanders Ronald J. A., van Gennip Albert H., Hoeben Rob C. Ganciclovir nucleotides accumulate in mitochondria of rat liver cells expressing the herpes simplex virus thymidine kinase gene journal of gene medicine 2003;5 (12):1018-1027 [PubMed]
  • de Ruijter Annemieke J. M., van Gennip Albert H., Caron Huib N., Kemp Stephan, van Kuilenburg André B. P. Histone deacetylases (HDACs): characterization of the classical HDAC family Biochemical journal 2003;370 (Part 3):737-749 [PubMed]
  • van Kuilenburg A. B. P., Baars J. W., Meinsma R., van Gennip A. H. Lethal 5-fluorouracil toxicity associated with a novel mutation in the dihydropyrimidine dehydrogenase gene Annals of oncology 2003;14 (2):341-342 [PubMed]
  • Sienaert R., Naesens L., Brancale A., Carangio A., Andrei G., Snoeck R., van Kuilenburg A., de Clercq E., McGuigan C., Balzarini J. Metabolic and pharmacological characteristics of the bicyclic nucleoside analogues (BCNAs) as highly selective inhibitors of varicella-zoster virus (VZV) Nucleosides, nucleotides & nucleic acids 2003;22 (5-8):995-997 [PubMed]
  • van Kuilenburg André B. P., de Abreu Ronney A., van Gennip Albert H. Pharmacogenetic and clinical aspects of dihydropyrimidine dehydrogenase deficiency Annals of clinical biochemistry 2003;40 (Part 1):41-45 [PubMed]
  • Peters G. J., Noordhuis P., van Kuilenburg A. B. P., Schornagel J. H., Gall H., Turner S. L., Swart M. S., Voorn D., van Gennip A. H., Wanders J., Holwerda U., Smid K., Giaccone G., Fumoleau P., van Groeningen C. J. Pharmacokinetics of S-1, an oral formulation of ftorafur, oxonic acid and 5-chloro-2,4-dihydroxypyridine (molar ratio 1:0.4:1) in patients with solid tumors Cancer chemotherapy and pharmacology 2003;52 (1):1-12 [PubMed]
  • Kuhara Tomiko, Ohdoi Chie, Ohse Morimasa, van Kuilenburg André B. P., van Gennip Albert H., Sumi Satoshi, Ito Tetsuya, Wada Yoshiro, Matsumoto Isamu Rapid gas chromatographic-mass spectrometric diagnosis of dihydropyrimidine dehydrogenase deficiency and dihydropyrimidinase deficiency Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 2003;792 (1):107-115 [PubMed]
  • Bierau J. The pivotal role of CTP synthetase in the metabolism of (deoxy)nucleosides in neuroblastoma 2003. 136p. ISBN 9789064646195. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Caron H. N.; Co-supervisors: van Kuilenburg A. B. P., van Gennip A. H.)

2002

  • Vermes András, Guchelaar Henk-Jan, van Kuilenburg Andre B. P., Dankert Jacob 5-fluorocytosine-related bone-marrow depression and conversion to fluorouracil: a pilot study Fundamental & clinical pharmacology 2002;16 (1):39-47 [PubMed]
  • Verschuur Arnauld C., van Gennip Albert H., Leen René, Voûte P. A., Brinkman Josanne, van Kuilenburg André B. P. Cyclopentenyl cytosine increases the phosphorylation and incorporation into DNA of 1-beta-D-arabinofuranosyl cytosine in a human T-lymphoblastic cell line International journal of cancer. Journal international du cancer 2002;98 (4):616-623 [PubMed]
  • van Kuilenburg André B., Meinsma Rutger, Zoetekouw Lida, van Gennip Albert H. High prevalence of the IVS14 + 1G>A mutation in the dihydropyrimidine dehydrogenase gene of patients with severe 5-fluorouracil-associated toxicity Pharmacogenetics 2002;12 (7):555-558 [PubMed]
  • van Kuilenburg A. B. P., van Gennip A. H. HPLC-electrospray tandem mass spectrometry in screening for disorders of purine and opyrimidine metabolism: commentaryin: D. E. Bruns, Y. M. D. Lo, C. T. Wittwer, editors. Molecular testing in laboratory medicine: Selections from Clinical Chemistry, 1998-2001, with annotations and updates. Washington: AACC Press; 2002. p. 161-162, ISBN 9781890883607
  • van Kuilenburg A. B. P., Meinsma R., Poll-The B. T., Zoetekouw L., van Gennip A. H. Identification of a novel disease-causing mutation (100deIA) in the dihydropyrimidine dehydrogenase gene LIFEXY 2002;1:1096-1100
  • van Kuilenburg André B. P., Meinsma Rutger, Zoetekouw Lida, van Gennip Albert H. 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 International journal of cancer. Journal international du cancer 2002;101 (3):253-258 [PubMed]
  • Balzarini Jan, Sienaert Rebecca, Liekens Sandra, van Kuilenburg André, Carangio Antonella, Esnouf Robert, de Clercq Erik, McGuigan Chris Lack of susceptibility of bicyclic nucleoside analogs, highly potent inhibitors of varicella-zoster virus, to the catabolic action of thymidine phosphorylase and dihydropyrimidine dehydrogenase Molecular pharmacology 2002;61 (5):1140-1145 [PubMed]
  • van Kuilenburg André B. P., Dobritzsch Doreen, Meinsma Rutger, Haasjes Janet, Waterham Hans R., Nowaczyk Malgorzata J. M., Maropoulos George D., Hein Guido, Kalhoff Hermann, Kirk Jean M., Baaske Holger, Aukett Anne, Duley John A., Ward Kate P., Lindqvist Ylva, van Gennip Albert H. Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure Biochemical journal 2002;364 (Part 1):157-163 [PubMed]
  • Maring J. G., van Kuilenburg A. B. P., Haasjes J., Piersma H., Groen H. J. M., Uges D. R. A., van Gennip A. H., de Vries E. G. E. Reduced 5-FU clearance in a patient with low DPD activity due to heterozygosity for a mutant allele of the DPYD gene British journal of cancer 2002;86 (7):1028-1033 [PubMed]
  • Bierau Jörgen, van Gennip Albert H., Leen René, Caron Huib N., van Kuilenburg André B. P. Retinoic acid reduces the cytotoxicity of cyclopentenyl cytosine in neuroblastoma cells FEBS letters 2002;527 (1-3):229-233 [PubMed]

2001

  • Moolenaar S. H., Göhlich-Ratmann G., Engelke U. F., Spraul M., Humpfer E., Dvortsak P., Voit T., Hoffmann G. F., Bräutigam C., van Kuilenburg A. B., van Gennip A., Vreken P., Wevers R. A. beta-Ureidopropionase deficiency: a novel inborn error of metabolism discovered using NMR spectroscopy on urine Magnetic resonance in medicine 2001;46 (5):1014-1017 [PubMed]
  • Verschuur A. C., Brinkman J., van Gennip A. H., Leen R., Vet R. J., Evers L. M., Voûte P. A., van Kuilenburg A. B. Cyclopentenyl cytosine induces apoptosis and increases cytarabine-induced apoptosis in a T-lymphoblastic leukemic cell-line Leukemia research 2001;25 (10):891-900 [PubMed]
  • van Kuilenburg A. B., van Lenthe H., Assmann B., Göhlich-Ratmann G., Hoffmann G. F., Bräutigam C., Wevers R. A., van Gennip A. H. Detection of beta-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level Journal of inherited metabolic disease 2001;24 (7):725-732 [PubMed]
  • van Kuilenburg A. B., Muller E. W., Haasjes J., Meinsma R., Zoetekouw L., Waterham H. R., Baas F., Richel D. J., van Gennip A. H. 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 Clinical cancer research 2001;7 (5):1149-1153 [PubMed]
  • Raida M., Schwabe W., Häusler P., van Kuilenburg A. B., van Gennip A. H., Behnke D., Höffken K. Prevalence of a common point mutation in the dihydropyrimidine dehydrogenase (DPD) gene within the 5'-splice donor site of intron 14 in patients with severe 5-fluorouracil (5-FU)- related toxicity compared with controls Clinical cancer research 2001;7 (9):2832-2839 [PubMed]
  • Volk J., Reinke F., van Kuilenburg A. B., van Gennip A. H., Schlichting C., Ganser A., Schöffski P. Safe administration of irinotecan, oxaliplatin and raltitrexed in a DPD-deficient patient with metastatic colon cancer Annals of oncology 2001;12 (4):569-571 [PubMed]
  • van Kuilenburg A. B., Stroomer A. E., Peters G. J., van Gennip A. H. Simultaneous determination of F-beta-alanine and beta-alanine in plasma and urine with dual-column reversed-phase high-performance liquid chromatography Journal of chromatography. B, Biomedical sciences and applications 2001;759 (1):51-61 [PubMed]
  • Bierau J., van Gennip A. H., Helleman J., van Kuilenburg A. B. The cytostatic- and differentiation-inducing effects of cyclopentenyl cytosine on neuroblastoma cell lines Biochemical pharmacology 2001;62 (8):1099-1105 [PubMed]

2000

  • van Kuilenburg A. B., Haasjes J., Richel D. J., Zoetekouw L., van Lenthe H., de Abreu R. A., Maring J. G., Vreken P., van Gennip A. H. Clinical implications of dihydropyrimidine dehydrogenase (DPD) deficiency in patients with severe 5-fluorouracil-associated toxicity: identification of new mutations in the DPD gene Clinical cancer research 2000;6 (12):4705-4712 [PubMed]
  • van Kuilenburg A. B., van Lenthe H., Ratmann G. G., Assmann B., Hoffmann G. F., Brautigam C., van Gennip A. H. Confirmation of the enzyme defect in the first case of beta-ureidopropionase deficiency. Beta-alanine deficiency Advances in experimental medicine and biology 2000;486:243-246 [PubMed]
  • Verschuur A. C., van Gennip A. H., Leen R., Voûte P. A., van Kuilenburg A. B. Cyclopentenyl cytosine increases the phosphorylation and incorporation into dna of arabinofu-ranosyl cytosine in a myeloid leukemic cell-line Advances in experimental medicine and biology 2000;486:311-317 [PubMed]
  • Verschuur A. C., van Gennip A. H., Brinkman J., Voûte P. A., van Kuilenburg A. B. Cyclopentenyl cytosine induces apoptosis and secondary necrosis in a T-lymphoblastic leukemic cell-line Advances in experimental medicine and biology 2000;486:319-325 [PubMed]
  • Verschuur A. C., van Gennip A. H., Leen R., Muller E. J., Elzinga L., Voûte P. A., van Kuilenburg A. B. Cyclopentenyl cytosine inhibits cytidine triphosphate synthetase in paediatric acute non-lymphocytic leukaemia: a promising target for chemotherapy European journal of cancer (Oxford, England 2000;36 (5):627-635 [PubMed]
  • van Lenthe H., van Kuilenburg A. B., Ito T., Bootsma A. H., van Cruchten A., Wada Y., van Gennip A. H. Defects in pyrimidine degradation identified by HPLC-electrospray tandem mass spectrometry of urine specimens or urine-soaked filter paper strips Clinical chemistry 2000;46 (12):1916-1922 [PubMed]
  • van Gennip A. H., van Kuilenburg A. B. Defects of pyrimidine degradation: clinical, molecular and diagnostic aspects Advances in experimental medicine and biology 2000;486:233-241 [PubMed]
  • van Kuilenburg A. B., Haasjes J., van Lenthe H., Zoetekouw L., Waterham H. R., Vreken P., van Gennip A. H. Dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil associated toxicity Advances in experimental medicine and biology 2000;486:251-255 [PubMed]
  • van Kuilenburg A. B., Haasjes J., Meinsma R., Waterham H. R., Vreken P., van Gennip A. H. Dihydropyrimidine dehydrogenase (DPD) deficiency: novel mutations in the DPD gene Advances in experimental medicine and biology 2000;486:247-250 [PubMed]
  • van Gennip A. H., van Lenthe H., Ito T., Bootsma A. H., van Cruchten A. C., Wada Y., van Kuilenburg A. B. HPLC/ESI tandem-MS of liquid urine or urine soaked filter-paper strips for the detection of thymine-uraciluria and dihydropyrimidinuria Advances in experimental medicine and biology 2000;486:377-382 [PubMed]
  • van Kuilenburg A. B., Meinsma R., Vreken P., Waterham H. R., van Gennip A. H. Identification of a cDNA encoding an isoform of human CTP synthetase BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION 2000;1492 (2-3):548-552 [PubMed]
  • Verschuur A. C., van Gennip A. H., Leen R., Meinsma R., Voute P. A., van Kuilenburg A. B. In vitro inhibition of cytidine triphosphate synthetase activity by cyclopentenyl cytosine in paediatric acute lymphocytic leukaemia British journal of haematology 2000;110 (1):161-169 [PubMed]
  • van Kuilenburg A. B., Meinsma R., Vreken P., Waterham H. R., van Gennip A. H. Isoforms of human CTP synthetase Advances in experimental medicine and biology 2000;486:257-261 [PubMed]
  • van den Berg H., Noorduyn A., van Kuilenburg A. B., Kroes W., de Jong D. Leukaemic expression of anaplastic large cell lymphoma with 46,XX,ins(2;5)(p23;q15q35) in a child with dihydropyrimidine dehydrogenase deficiency Leukemia 2000;14 (4):769-770 [PubMed]
  • van Kuilenburg A. B., van Lenthe H., Tromp A., Veltman P. C., van Gennip A. H. Pitfalls in the diagnosis of patients with a partial dihydropyrimidine dehydrogenase deficiency Clinical chemistry 2000;46 (1):9-17 [PubMed]
  • Ito T., van Kuilenburg A. B., Bootsma A. H., Haasnoot A. J., van Cruchten A., Wada Y., van Gennip A. H. Rapid screening of high-risk patients for disorders of purine and pyrimidine metabolism using HPLC-electrospray tandem mass spectrometry of liquid urine or urine-soaked filter paper strips Clinical chemistry 2000;46 (4):445-452 [PubMed]
  • Bierau J., van Gennip A. H., van Kuilenburg A. B. Recovery of SK-N-BE(2)c cells from treatment with cyclopentenyl cytosine Advances in experimental medicine and biology 2000;486:277-280 [PubMed]
  • Ito T., van Kuilenburg A. B., Bootsma A. H., Haasnoot A. J., van Cruchten A., Wada Y., van Gennip A. H. The application of HPLC/ESI tandem mass spectrometry on urine-soaked filter-paper strips for the screening of disorders of purine and pyrimidine metabolism Journal of inherited metabolic disease 2000;23 (4):434-437 [PubMed]

1999

  • van Kuilenburg A. B., van Lenthe H., van Gennip A. H. A radiochemical assay for beta-ureidopropionase using radiolabeled N-carbamyl-beta-alanine obtained via hydrolysis of [2-(14)C]5, 6-dihydrouracil Analytical biochemistry 1999;272 (2):250-253 [PubMed]
  • Vreken P., van Kuilenburg A. B., Hamajima N., Meinsma R., van Lenthe H., Göhlich-Ratmann G., Assmann B. E., Wevers R. A., van Gennip A. H. cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding beta-ureidopropionase BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION 1999;1447 (2-3):251-257 [PubMed]
  • van Kuilenburg A. B., Vreken P., Riva D., Botteon G., Abeling N. G., Bakker H. D., van Gennip A. H. Clinical and biochemical abnormalities in a patient with dihydropyrimidine dehydrogenase deficiency due to homozygosity for the C29R mutation Journal of inherited metabolic disease 1999;22 (2):191-192 [PubMed]
  • Verschuur A. C., van Gennip A. H., Muller E. J., Voûte P. A., Vreken P., van Kuilenburg A. B. Cytidine triphosphate synthase activity and mRNA expression in normal human blood cells Biological chemistry 1999;380 (1):41-46 [PubMed]
  • 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. Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency Human genetics 1999;104 (1):1-9 [PubMed]
  • van Kuilenburg A. B., van Lenthe H., Blom M. J., Mul E. P., van Gennip A. H. Profound variation in dihydropyrimidine dehydrogenase activity in human blood cells: major implications for the detection of partly deficient patients British journal of cancer 1999;79 (3-4):620-626 [PubMed]
  • van Kuilenburg A. B., van Lenthe H., van Gennip A. H. Radiochemical assay for determination of dihydropyrimidinase activity using reversed-phase high-performance liquid chromatography Journal of chromatography. B, Biomedical sciences and applications 1999;729 (1-2):307-314 [PubMed]

1998

  • van Gennip A. H., de Abreu R. A., Vreken P., van Kuilenburg A. B. Clinical and biochemical aspects of dihydropyrimidinase deficiency Advances in experimental medicine and biology 1998;431:125-128 [PubMed]
  • Christensen E., Cezanne I., Kjaergaard S., Hørlyk H., Faurholt Pedersen V., Vreken P., van Kuilenburg A. B., van Gennip A. H. Clinical variability in three Danish patients with dihydropyrimidine dehydrogenase deficiency all homozygous for the same mutation Journal of inherited metabolic disease 1998;21 (3):272-275 [PubMed]
  • Hamajima N., Kouwaki M., Vreken P., Matsuda K., Sumi S., Imaeda M., Ohba S., Kidouchi K., Nonaka M., Sasaki M., Tamaki N., Endo Y., de Abreu R., Rotteveel J., van Kuilenburg A., van Gennip A., Togari H., Wada Y. Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene American journal of human genetics 1998;63 (3):717-726 [PubMed]
  • Vreken P., van Kuilenburg A. B., Meinsma R., Beemer F. A., Duran M., van Gennip A. H. Dihydropyrimidine dehydrogenase deficiency: a novel mutation and expression of missense mutations in E. coli Journal of inherited metabolic disease 1998;21 (3):276-279 [PubMed]
  • Vreken P., van Kuilenberg A. B. P., Meinsma R., Beemer F. A., Duran M., van Gennip A. H. Dihydropyrimidine dehydrogenase deficiency: a novel mutation and expression of missense mutations in E-coli (vol 21, pg 276, 1998) Journal of inherited metabolic disease 1998;21 (6):623
  • Vreken P., van Kuilenburg A. B., Meinsma R., van Gennip A. H. Dihydropyrimidine dehydrogenase deficiency. Identification of two novel mutations and expression of missense mutations in E. coli Advances in experimental medicine and biology 1998;431:341-346 [PubMed]
  • Ridge S. A., Sludden J., Brown O., Robertson L., Wei X., Sapone A., Fernandez-Salguero P. M., Gonzalez F. J., Vreken P., van Kuilenburg A. B., van Gennip A. H., McLeod H. L. Dihydropyrimidine dehydrogenase pharmacogenetics in Caucasian subjects British journal of clinical pharmacology 1998;46 (2):151-156 [PubMed]
  • van Kuilenburg A. B., Vreken P., Beex L. V., Meinsma R., van Lenthe H., de Abreu R. A., van Gennip A. H. Heterozygosity for a point mutation in an invariant splice donor site of dihydropyrimidine dehydrogenase and severe 5-fluorouracil related toxicity Advances in experimental medicine and biology 1998;431:293-298 [PubMed]
  • Slingerland R. J., van Kuilenburg A. B., Bodlaender J. M., Overmars H., Voûte P. A., van Gennip A. H. High-performance liquid chromatographic analysis of biogenic amines in cells and in culture media using on-line dialysis and trace enrichment Journal of chromatography. B, Biomedical sciences and applications 1998;716 (1-2):65-75 [PubMed]
  • Verschuur A. C., van Gennip A. H., Muller E. J., Voûte P. A., van Kuilenburg A. B. Increased activity of cytidine Triphosphate synthetase in pediatric acute lymphoblastic leukemia Advances in experimental medicine and biology 1998;431:667-671 [PubMed]
  • van Kuilenburg A. B., Elzinga L., van Gennip A. H. Kinetic properties of CTP synthetase from HL-60 cells Advances in experimental medicine and biology 1998;431:255-258 [PubMed]
  • van Kuilenburg A. B., Poorter R. L., Peters G. J., van Gennip A. H., van Lenthe H., Stroomer A. E., Smid K., Noordhuis P., Bakker P. J., Veenhof C. H. No circadian variation of dihydropyrimidine dehydrogenase, uridine phosphorylase, beta-alanine, and 5-fluorouracil during continuous infusion of 5-fluorouracil Advances in experimental medicine and biology 1998;431:811-816 [PubMed]
  • McLeod H. L., Collie-Duguid E. S., Vreken P., Johnson M. R., Wei X., Sapone A., Diasio R. B., Fernandez-Salguero P., van Kuilenberg A. B., van Gennip A. H., Gonzalez F. J. Nomenclature for human DPYD alleles Pharmacogenetics 1998;8 (6):455-459 [PubMed]
  • van Kuilenburg A. B., Vreken P., Beex L. V., de Abreu R. A., van Gennip A. H. Severe 5-fluorouracil toxicity caused by reduced dihydropyrimidine dehydrogenase activity due to heterozygosity for a G-->A point mutation Journal of inherited metabolic disease 1998;21 (3):280-284 [PubMed]
  • van Kuilenburg A. B. P., Vreken P., Beex L. V. A. M., de Abreu R. A., van Gennip A. H. Severe 5-fluorouracil toxicity caused by reduced dihydropyrimidine dehydrogenase activity due to heterozygosity for a G -> A point mutation (vol 21, pg 280, 1998) Journal of inherited metabolic disease 1998;21 (7):783
  • van Kuilenburg A. B., van Lenthe H., Wanders R. J., van Gennip A. H. Subcellular localization of dihydropyrimidine dehydrogenase Advances in experimental medicine and biology 1998;431:817-821 [PubMed]
  • van Kuilenburg A. B., van Lenthe H., Blom M. J., Mul E. P., van Gennip A. H. The activity of dihydropyrimidine dehydrogenase in human blood cells Advances in experimental medicine and biology 1998;431:823-826 [PubMed]

1997

  • Gustafson L. A., Jumelle-Laclau M. N., van Woerkom G. M., van Kuilenburg A. B., Meijer A. J. Cell swelling and glycogen metabolism in hepatocytes from fasted rats BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS 1997;1318 (1-2):184-190 [PubMed]
  • van Kuilenburg A. B., Elzinga L., Verschuur A. C., van den Berg A. A., Slingerland R. J., van Gennip A. H. Determination of CTP synthetase activity in crude cell homogenates by a fast and sensitive non-radiochemical assay using anion-exchange high-performance liquid chromatography Journal of chromatography. B, Biomedical sciences and applications 1997;693 (2):287-295 [PubMed]
  • Assmann B., Hoffmann G. F., Wagner L., Bräutigam C., Seyberth H. W., Duran M., van Kuilenburg A. B., Wevers R., van Gennip A. H. Dihydropyrimidinase deficiency and congenital microvillous atrophy: coincidence or genetic relation? Journal of inherited metabolic disease 1997;20 (5):681-688 [PubMed]
  • van Gennip A. H., de Abreu R. A., van Lenthe H., Bakkeren J., Rotteveel J., Vreken P., van Kuilenburg A. B. Dihydropyrimidinase deficiency: confirmation of the enzyme defect in dihydropyrimidinuria Journal of inherited metabolic disease 1997;20 (3):339-342 [PubMed]
  • Vreken P., van Kuilenburg A. B., Meinsma R., van Gennip A. H. Dihydropyrimidine dehydrogenase (DPD) deficiency: identification and expression of missense mutations C29R, R886H and R235W Human genetics 1997;101 (3):333-338 [PubMed]
  • Van Gennip A. H., Abeling N. G.G.M., Vreken P., Van Kuilenburg A. B.P. Genetic metabolic disease of pyrimidine metabolism: Implications for diagnosis and treatment International Pediatrics 1997;12 (1):28-33
  • Tytgat G. A., Cornelissen J., van den Brug M., van Kuilenburg A. B., Voute P. A., van der Kleij A. J., van Gennip A. H. HBO and the uptake and retention of [125I] MIBG in human platelets and two neuroendocrine cell lines Anticancer research 1997;17 (2A):1209-1212 [PubMed]
  • van Kuilenburg A. B., Vreken P., Beex L. V., Meinsma R., van Lenthe H., de Abreu R. A., van Gennip A. H. Heterozygosity for a point mutation in an invariant splice donor site of dihydropyrimidine dehydrogenase and severe 5-fluorouracil related toxicity European journal of cancer (Oxford, England 1997;33 (13):2258-2264 [PubMed]
  • Cornelissen J., van Kuilenburg A. B., Elzinga L., van der Kleij A. D., Voûte P. A., van Gennip A. H. Hyperbaric oxygen enhances the effects of meta-iodobenzylguanidine (MIBG) on energy metabolism and lipid peroxidation in the human neuroblastoma cell line SK-N-BE(2C) Anticancer research 1997;17 (1A):259-264 [PubMed]
  • Vreken P., van Kuilenburg A. B., Meinsma R., de Abreu R. A., van Gennip A. H. Identification of a four-base deletion (delTCAT296-299) in the dihydropyrimidine dehydrogenase gene with variable clinical expression Human genetics 1997;100 (2):263-265 [PubMed]
  • Vreken P., van Kuilenburg A. B., Meinsma R., van Gennip A. H. Identification of novel point mutations in the dihydropyrimidine dehydrogenase gene Journal of inherited metabolic disease 1997;20 (3):335-338 [PubMed]
  • van Gennip A. H., Abeling N. G., Vreken P., van Kuilenburg A. B. Inborn errors of pyrimidine degradation: clinical, biochemical and molecular aspects Journal of inherited metabolic disease 1997;20 (2):203-213 [PubMed]
  • van Gennip A. H., van Lenthe H., Abeling N. G., Scholten E. G., van Kuilenburg A. B. Inhibition of beta-ureidopropionase by propionate may contribute to the neurological complications in patients with propionic acidaemia Journal of inherited metabolic disease 1997;20 (3):379-382 [PubMed]
  • Slingerland R. J., van Gennip A. H., Bodlaender J. M., Voûte P. A., van Kuilenburg A. B. In-situ cytidine-deaminase activity and chromosome 1P deletion in human neuroblastoma cells Anticancer research 1997;17 (1A):457-459 [PubMed]
  • Cornelissen J., Tytgat G. A., van den Brug M., van Kuilenburg A. B., Voûte P. A., van Gennip A. H. Menadione inhibits MIBG uptake in two neuroendocrine cell lines Journal of neuro-oncology 1997;31 (1-2):147-151 [PubMed]
  • Cornelissen J., van Kuilenburg A. B., Voûte P. A., van Gennip A. H. MIBG causes oxidative stress and up-regulation of anti-oxidant enzymes in the human neuroblastoma cell line SK-N-BE(2c) International journal of cancer. Journal international du cancer 1997;72 (3):486-490 [PubMed]
  • Holopainen I., Pulkki K., Heinonen O. J., Näntö-Salonen K., Haataja L., Greter J., Holme E., van Kuilenburg A. B., Vreken P., van Gennip A. H. Partial epilepsy in a girl with a symptom-free sister: first two Finnish patients with dihydropyrimidine dehydrogenase deficiency Journal of inherited metabolic disease 1997;20 (5):719-720 [PubMed]
  • Cornelissen J., van Belzen R., van Gennip A. H., Voûte P. A., van Kuilenburg A. B. Specification of the inhibitory action of MIBG on the respiratory chain by EPR scanning Anticancer research 1997;17 (1A):265-268 [PubMed]
  • van Kuilenburg A. B., van Lenthe H., Wanders R. J., van Gennip A. H. Subcellular localization of dihydropyrimidine dehydrogenase Biological chemistry 1997;378 (9):1047-1053 [PubMed]
  • van Kuilenburg A. B., Blom M. J., van Lenthe H., Mul E., van Gennip A. H. The activity of dihydropyrimidine dehydrogenase in human blood cells Journal of inherited metabolic disease 1997;20 (3):331-334 [PubMed]
  • Cornelissen J., van Kuilenburg A. B., Voûte P. A., van Gennip A. H. The effect of the neuroblastoma-seeking agent meta-iodobenzylguanidine (MIBG) on NADH-driven superoxide formation and NADH-driven lipid peroxidation in beef heart submitochondrial particles European journal of cancer (Oxford, England 1997;33 (3):421-424 [PubMed]

1996

  • Verschuur A. C., Van Kuilenburg A. B.P., Van Gennip A. H., Voûte P. A. Afwijkende nucleotiden-verhoudingen in acute lymfatische leukemie als gevolg van een verhoogde activiteit van cytidine trifosfaat synthetase Tijdschrift voor kindergeneeskunde 1996;64 (SUPPL. 1):99
  • Vreken P., van Kuilenburg A. B., Meinsma R., Smit G. P., Bakker H. D., de Abreu R. A., van Gennip A. H. A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency Journal of inherited metabolic disease 1996;19 (5):645-654 [PubMed]
  • Cornelissen J., Van Kuilenburg A. B.P., Voûte P. A., Van Gennip A. H. Het effect van MIBG op neuroblastoom cellen; betrokkenheid van radicalen Tijdschrift voor kindergeneeskunde 1996;64 (SUPPL. 1):20
  • van Kuilenburg A. B., van Lenthe H., van Gennip A. H. Identification and tissue-specific expression of a NADH-dependent activity of dihydropyrimidine dehydrogenase in man Anticancer research 1996;16 (1):389-394 [PubMed]
  • Back N. K., Nijhuis M., Keulen W., Boucher C. A., Oude Essink B. O., van Kuilenburg A. B., van Gennip A. H., Berkhout B. Reduced replication of 3TC-resistant HIV-1 variants in primary cells due to a processivity defect of the reverse transcriptase enzyme EMBO journal 1996;15 (15):4040-4049 [PubMed]

1995

  • van Gennip A. H., van Lenthe H., Abeling N. G., Bakker H. D., van Kuilenburg A. B. Combined deficiencies of NADPH- and NADH-dependent dihydropyrimidine dehydrogenases, a new finding in a family with thymine-uraciluria Journal of inherited metabolic disease 1995;18 (2):185-188 [PubMed]
  • Slingerland R. J., van Gennip A. H., Bodlaender J. M., Voûte P. A., van Kuilenburg A. B. Cyclopentenyl cytosine and neuroblastoma SK-N-BE(2)-C cell line cells European journal of cancer (Oxford, England 1995;31A (4):627-631 [PubMed]
  • van den Berg A. A., van Lenthe H., Kipp J. B., de Korte D., van Kuilenburg A. B., van Gennip A. H. Cytidine triphosphate (CTP) synthetase activity during cell cycle progression in normal and malignant T-lymphocytic cells European journal of cancer (Oxford, England 1995;31A (1):108-112 [PubMed]
  • Meinsma R., Fernandez-Salguero P., van Kuilenburg A. B., van Gennip A. H., Gonzalez F. J. Human polymorphism in drug metabolism: mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine uracilurea DNA and cell biology 1995;14 (1):1-6 [PubMed]
  • Cornelissen J., Wanders R. J., van Gennip A. H., van den Bogert C., Voûte P. A., van Kuilenburg A. B. Meta-iodobenzylguanidine inhibits complex I and III of the respiratory chain in the human cell line Molt-4 Biochemical pharmacology 1995;49 (4):471-477 [PubMed]
  • Cornelissen J., Wanders R. J., van den Bogert C., van Kuilenburg A. B., Elzinga L., Voûte P. A., van Gennip A. H. Meta-iodobenzylguanidine (MIBG) inhibits malate and succinate driven mitochondrial ATP synthesis in the human neuroblastoma cell line SK-N-BE(2c) European journal of cancer (Oxford, England 1995;31A (4):582-586 [PubMed]
  • Slingerland R. J., van Gennip A. H., Bodlaender J. M., Voûte P. A., van Kuilenburg A. B. Quantitative analysis of the pyrimidine metabolism in pheochromocytoma PC-12 cells European Journal of Biochemistry / FEBS 1995;233 (2):538-543 [PubMed]
  • Slingerland R. J., van Gennip A. H., Bodlaender J. M., Voûte P. A., van Kuilenburg A. B. The effect of cyclopentenyl cytosine on human SK-N-BE(2)-C neuroblastoma cells Biochemical pharmacology 1995;50 (2):277-279 [PubMed]
  • van Berg A. A., Mooyer P. A., van Lenthe H., Stet E. H., de Abreu R. A., van Kuilenburg A. B., van Gennip A. H. The IMP dehydrogenase inhibitor mycophenolic acid antagonizes the CTP synthetase inhibitor 3-deazauridine in MOLT-3 human leukemia cells: a central role for phosphoribosyl pyrophosphate Biochemical pharmacology 1995;50 (7):1095-1098 [PubMed]

1994

  • van Kuilenburg A. B., Elzinga L., van den Berg A. A., Slingerland R. J., van Gennip A. H. A fast and novel assay of CTP synthetase. Evidence for hysteretic properties of the mammalian enzyme Anticancer research 1994;14 (2A):411-415 [PubMed]
  • Slingerland R. J., van Kuilenburg A. B., Bodlaender J., van Lenthe H., Kreuk E., Voûte P. A., van Gennip A. H. Compartmentation of ribonucleotides in PC-12 cells: free and protein bound ribonucleotides Advances in experimental medicine and biology 1994;370:283-286 [PubMed]
  • Diasio R. B., van Kuilenburg A. B., Lu Z., Zhang R., van Lenthe H., Bakker H. D., van Gennip A. H. Determination of dihydropyrimidine dehydrogenase (DPD) in fibroblasts of a DPD deficient pediatric patient and family members using a polyclonal antibody to human DPD Advances in experimental medicine and biology 1994;370:7-10 [PubMed]
  • Slingerland R. J., van Kuilenburg A. B., Bodlaender J., van Lenthe H., Kreuk E., Voûte P. A., van Gennip A. H. Imbalance between the pyrimidine ribonucleotide pools in rat rhabdomyosarcoma R1 cells Advances in experimental medicine and biology 1994;370:279-282 [PubMed]
  • van Kuilenburg A. B., van den Berg A. A., Meinsma J. R., Slingerland R. J., van Gennip A. H. Inhibition of CTP synthetase induces differentiation of HL-60 cells and down-regulation of the c-myc oncogene Advances in experimental medicine and biology 1994;370:761-764 [PubMed]
  • van den Berg A. A., van Lenthe H., van Kuilenburg A. B., van Gennip A. H. The roles of uridine-cytidine kinase and CTP synthetase in the synthesis of CTP in malignant human T-lymphocytic cells Advances in experimental medicine and biology 1994;370:261-264 [PubMed]
  • van den Berg A. A., van Lenthe H., Busch S., de Korte D., van Kuilenburg A. B., van Gennip A. H. The roles of uridine-cytidine kinase and CTP synthetase in the synthesis of CTP in malignant human T-lymphocytic cells Leukemia 1994;8 (8):1375-1378 [PubMed]

1993

  • van den Berg A. A., van Lenthe H., Busch S., de Korte D., Roos D., van Kuilenburg A. B., van Gennip A. H. Evidence for transformation-related increase in CTP synthetase activity in situ in human lymphoblastic leukemia European Journal of Biochemistry / FEBS 1993;216 (1):161-167 [PubMed]
  • Slingerland R. J., Bodlaender J. M., Van Lenthe H., Van Kuilenburg A. B.P., Van Gennip A. H. Imbalance between the pyrimidine ribonucleotide pools of rat pheochromocytoma PC-12 cells Clinical Chemistry and Enzymology Communications 1993;5 (4-6):315-319

1992

  • van den Bogert C., Dekker H. L., Cornelissen J. C., van Kuilenburg A. B., Bolhuis P. A., Muijsers A. O. Isoforms of cytochrome c oxidase in tissues and cell lines of the mouse BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS 1992;1099 (2):118-122 [PubMed]
  • van Kuilenburg A. B., Gorren A. C., Dekker H. L., Nieboer P., van Gelder B. F., Muijsers A. O. Presteady-state and steady-state kinetic properties of human cytochrome c oxidase. Identification of rate-limiting steps in mammalian cytochrome c oxidase European Journal of Biochemistry / FEBS 1992;205 (3):1145-1154 [PubMed]
  • van Kuilenburg A. B., van Beeumen J. J., Demol H., van den Bogert C., Schouten I., Muijsers A. O. Subunit IV of human cytochrome c oxidase, polymorphism and a putative isoform BIOCHIMICA ET BIOPHYSICA ACTA-PROTEIN STRUCTURE AND MOLECULAR ENZYMOLOGY 1992;1119 (2):218-224 [PubMed]
  • van Kuilenburg A. B., van Beeumen J. J., van der Meer N. M., Muijsers A. O. Subunits VIIa,b,c of human cytochrome c oxidase. Identification of both 'heart-type' and 'liver-type' isoforms of subunit VIIa in human heart European Journal of Biochemistry / FEBS 1992;203 (1-2):193-199 [PubMed]

1991

  • van Kuilenburg A. B., Dekker H. L., van den Bogert C., Nieboer P., van Gelder B. F., Muijsers A. O. Isoforms of human cytochrome-c oxidase. Subunit composition and steady-state kinetic properties European Journal of Biochemistry / FEBS 1991;199 (3):615-622 [PubMed]

1990

  • van Beeumen J. J., van Kuilenburg A. B., van Bun S., van den Bogert C., Tager J. M., Muijsers A. O. Demonstration of two isoforms of subunit VIIa of cytochrome c oxidase from human skeletal muscle. Implications for mitochondrial myopathies FEBS letters 1990;263 (2):213-216 [PubMed]

1988

  • Hoogland H., Dekker H. L., van Riel C., van Kuilenburg A., Muijsers A. O., Wever R. A steady-state study on the formation of Compounds II and III of myeloperoxidase BIOCHIMICA ET BIOPHYSICA ACTA-PROTEIN STRUCTURE AND MOLECULAR ENZYMOLOGY 1988;955 (3):337-345 [PubMed]
  • van Kuilenburg A. B., Muijsers A. O., Demol H., Dekker H. L., van Beeumen J. J. Human heart cytochrome c oxidase subunit VIII. Purification and determination of the complete amino acid sequence FEBS letters 1988;240 (1-2):127-132 [PubMed]

1987

  • Hoogland H., van Kuilenburg A., van Riel C., Muijsers A. O., Wever R. Spectral properties of myeloperoxidase compounds II and III BIOCHIMICA ET BIOPHYSICA ACTA-PROTEIN STRUCTURE AND MOLECULAR ENZYMOLOGY 1987;916 (1):76-82 [PubMed]