Developments in the treatment of Fabry disease
Veen, Sanne J., Hollak, Carla E. M., Kuilenburg, André B. P., Langeveld, Mirjam
Published in Journal of inherited metabolic disease (01.09.2020)
Published in Journal of inherited metabolic disease (01.09.2020)
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Journal Article
Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors
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
Published in PloS one (01.08.2017)
Published in PloS one (01.08.2017)
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Journal Article
Genotypes Affecting the Pharmacokinetics of Anticancer Drugs
Bertholee, Daphne, Maring, Jan Gerard, van Kuilenburg, André B. P.
Published in Clinical pharmacokinetics (01.04.2017)
Published in Clinical pharmacokinetics (01.04.2017)
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Journal Article
Acute Aerobic Exercise Leads to Increased Plasma Levels of R- and S-β-Aminoisobutyric Acid in Humans
Stautemas, Jan, Van Kuilenburg, André B. P., Stroomer, Lida, Vaz, Fred, Blancquaert, Laura, Lefevere, Filip B. D., Everaert, Inge, Derave, Wim
Published in Frontiers in physiology (25.09.2019)
Published in Frontiers in physiology (25.09.2019)
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Journal Article
All three MutL complexes are required for repeat expansion in a human stem cell model of CAG-repeat expansion mediated glutaminase deficiency
Hayward, Bruce, Kumari, Daman, Santra, Saikat, van Karnebeek, Clara D M, van Kuilenburg, André B P, Usdin, Karen
Published in Scientific reports (14.06.2024)
Published in Scientific reports (14.06.2024)
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Journal Article
Role of human hypoxanthine guanine phosphoribosyltransferase in activation of the antiviral agent T-705 (favipiravir)
Naesens, Lieve, Guddat, Luke W, Keough, Dianne T, van Kuilenburg, André B P, Meijer, Judith, Vande Voorde, Johan, Balzarini, Jan
Published in Molecular pharmacology (01.10.2013)
Published in Molecular pharmacology (01.10.2013)
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Journal Article
Dihydropyrimidine dehydrogenase gene variants for predicting grade 4-5 fluoropyrimidine-induced toxicity: FUSAFE individual patient data meta-analysis
Le Teuff, Gwénaël, Cozic, Nathalie, Boyer, Jean-Christophe, Boige, Valérie, Diasio, Robert B, Taieb, Julien, Meulendijks, Didier, Palles, Claire, Schwab, Matthias, Deenen, Maarten, Largiadèr, Carlo R, Marinaki, Anthony, Jennings, Barbara A, Wettergren, Yvonne, Di Paolo, Antonello, Gross, Eva, Budai, Barna, Ackland, Stephen P, van Kuilenburg, André B P, McLeod, Howard L, Milano, Gérard, Thomas, Fabienne, Loriot, Marie-Anne, Kerr, David, Schellens, Jan H M, Laurent-Puig, Pierre, Shi, Qian, Pignon, Jean-Pierre, Etienne-Grimaldi, Marie-Christine
Published in British journal of cancer (01.03.2024)
Published in British journal of cancer (01.03.2024)
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Journal Article
Preemptive screening of DPYD as part of clinical practice: high prevalence of a novel exon 4 deletion in the Finnish population
Saarenheimo, Jatta, Wahid, Nesna, Eigeliene, Natalja, Ravi, Ravichandra, Salomons, Gajja S., Ojeda, Matilde Fernandez, Vijzelaar, Raymon, Jekunen, Antti, van Kuilenburg, André B. P.
Published in Cancer chemotherapy and pharmacology (01.05.2021)
Published in Cancer chemotherapy and pharmacology (01.05.2021)
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Journal Article
Catecholamines profiles at diagnosis: Increased diagnostic sensitivity and correlation with biological and clinical features in neuroblastoma patients
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
Published in European journal of cancer (1990) (01.02.2017)
Published in European journal of cancer (1990) (01.02.2017)
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Journal Article
Dihydropyrimidine dehydrogenase and the efficacy and toxicity of 5-fluorouracil
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Book Review
Journal Article
Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study
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
Published in Journal of medical genetics (01.05.2018)
Published in Journal of medical genetics (01.05.2018)
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Journal Article
Altered Pre-mRNA Splicing Caused by a Novel Intronic Mutation c.1443+5G>A in the Dihydropyrimidinase (DPYS) Gene
Nakajima, Yoko, Meijer, Judith, Zhang, Chunhua, Wang, Xu, Kondo, Tomomi, Ito, Tetsuya, Dobritzsch, Doreen, Van Kuilenburg, André B P
Published in International journal of molecular sciences (12.01.2016)
Published in International journal of molecular sciences (12.01.2016)
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Journal Article
Multi‐omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways
Hermans, Merel E., Weeghel, Michel, Vaz, Frédéric M., Ferdinandusse, Sacha, Hollak, Carla E. M., Huidekoper, Hidde H., Janssen, Mirian C. H., Kuilenburg, André B. P., Pras‐Raves, Mia L., Wamelink, Mirjam M. C., Wanders, Ronald J. A., Welsink‐Karssies, Mendy M., Bosch, Annet M.
Published in Journal of inherited metabolic disease (01.11.2022)
Published in Journal of inherited metabolic disease (01.11.2022)
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Journal Article
Multi-OMIC profiling of survival and metabolic signaling networks in cells subjected to photodynamic therapy
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
Published in Cellular and molecular life sciences : CMLS (01.03.2017)
Published in Cellular and molecular life sciences : CMLS (01.03.2017)
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Journal Article
Long-Term Dose-Dependent Agalsidase Effects on Kidney Histology in Fabry Disease
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
Published in Clinical journal of the American Society of Nephrology (07.09.2017)
Published in Clinical journal of the American Society of Nephrology (07.09.2017)
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Journal Article
Predicting 5-fluorouracil toxicity: DPD genotype and 5,6-dihydrouracil:uracil ratio
Sistonen, Johanna, Büchel, Barbara, Froehlich, Tanja K, Kummer, Dominic, Fontana, Stefano, Joerger, Markus, van Kuilenburg, André BP, Largiadèr, Carlo R
Published in Pharmacogenomics (01.10.2014)
Published in Pharmacogenomics (01.10.2014)
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Journal Article
Translational Metabolism: A multidisciplinary approach towards precision diagnosis of inborn errors of metabolism in the omics era
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.
Published in Journal of inherited metabolic disease (01.03.2019)
Published in Journal of inherited metabolic disease (01.03.2019)
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Journal Article
Children with atopic dermatitis show increased activity of β‐glucocerebrosidase and stratum corneum levels of glucosylcholesterol that are strongly related to the local cytokine milieu
Kezic, Sanja, McAleer, Maeve A., Jakasa, Ivone, Goorden, Susan M.I., Vlugt, Karen Ghauharali‐van, Beers‐Stet, Femke S., Meijer, Judith, Roelofsen, Jeroen, Nieman, Monique M., Kuilenburg, André B.P., Irvine, Alan D.
Published in British journal of dermatology (1951) (01.06.2022)
Published in British journal of dermatology (1951) (01.06.2022)
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Journal Article
Anti-retroviral treatment with zidovudine alters pyrimidine metabolism, reduces translation, and extends healthy longevity via ATF-4
McIntyre, Rebecca L., Molenaars, Marte, Schomakers, Bauke V., Gao, Arwen W., Kamble, Rashmi, Jongejan, Aldo, van Weeghel, Michel, van Kuilenburg, André B.P., Possemato, Richard, Houtkooper, Riekelt H., Janssens, Georges E.
Published in Cell reports (Cambridge) (31.01.2023)
Published in Cell reports (Cambridge) (31.01.2023)
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