Genotypes Affecting the Pharmacokinetics of Anticancer Drugs

por Bertholee, Daphne, Maring, Jan Gerard, van Kuilenburg, André B. P.
Publicado no Clin Pharmacokinet (2016)

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

por Cuperus, Roos, Leen, René, Tytgat, Godelieve A. M., Caron, Huib N., van Kuilenburg, André B. P.
Publicado em 2009

Developments in the treatment of Fabry disease

por van der Veen, Sanne J., Hollak, Carla E. M., van Kuilenburg, André B. P., Langeveld, Mirjam
Publicado no J Inherit Metab Dis (2020)

Novel Genetic Mutations in the First Swedish Patient with Purine Nucleoside Phosphorylase Deficiency and Clinical Outcome After Hematopoietic Stem Cell Transplantation with HLA-Mat...

por Brodszki, Nicholas, Svensson, Maria, van Kuilenburg, André B. P., Meijer, Judith, Zoetekouw, Lida, Truedsson, Lennart, Toporski, Jacek
Publicado no JIMD Rep (2015)

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

por van Staveren, Maurice C., Theeuwes-Oonk, Barbara, Guchelaar, Henk Jan, van Kuilenburg, André B. P., Maring, Jan Gerard
Publicado em 2011

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

por Lee, Jun Hwa, van Kuilenburg, André B. P., Abeling, N. G. G. M., Vasta, Valeria, Hahn, Si Houn
Publicado no JIMD Rep (2015)

Histone deacetylases (HDACs): characterization of the classical HDAC family.

por de Ruijter, Annemieke J M, van Gennip, Albert H, Caron, Huib N, Kemp, Stephan, van Kuilenburg, André B P
Publicado em 2003

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 Eve...

por Balzarini, Jan, Gago, Federico, Kulik, Wim, van Kuilenburg, André B. P., Karlsson, Anna, Peterson, Matt A., Robins, Morris J.
Publicado em 2012

Dihydropyrimidine Dehydrogenase Deficiency in Two Malaysian Siblings with Abnormal MRI Findings

por Chen, Bee Chin, Mohd Rawi, Rowani, Meinsma, Rutger, Meijer, Judith, Hennekam, Raoul C.M., van Kuilenburg, André B.P.
Publicado no Mol Syndromol (2014)

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

por Nakajima, Yoko, Meijer, Judith, Zhang, Chunhua, Wang, Xu, Kondo, Tomomi, Ito, Tetsuya, Dobritzsch, Doreen, Van Kuilenburg, André B. P.
Publicado no Int J Mol Sci (2016)

Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene

por Puusepp, Sanna, Reinson, Karit, Pajusalu, Sander, van Kuilenburg, André B.P., Dobritzsch, Doreen, Roelofsen, Jeroen, Stenzel, Werner, Õunap, Katrin
Publicado no Mol Genet Metab Rep (2020)

New insights in dihydropyrimidine dehydrogenase deficiency: a pivotal role for beta-aminoisobutyric acid?

por Van Kuilenburg, André B P, Stroomer, Alida E M, Van Lenthe, Henk, Abeling, Nico G G M, Van Gennip, Albert H
Publicado em 2004

Acute Aerobic Exercise Leads to Increased Plasma Levels of R- and S-β-Aminoisobutyric Acid in Humans

por Stautemas, Jan, Van Kuilenburg, André B. P., Stroomer, Lida, Vaz, Fred, Blancquaert, Laura, Lefevere, Filip B. D., Everaert, Inge, Derave, Wim
Publicado no Front Physiol (2019)

Selective serotonin reuptake inhibitors (SSRIs) prevent meta-iodobenzylguanidine (MIBG) uptake in platelets without affecting neuroblastoma tumor uptake

por Blom, Thomas, Meinsma, Rutger, Rutgers, Marja, Buitenhuis, Corine, Dekken-Van den Burg, Marieke, van Kuilenburg, André B. P., Tytgat, Godelieve A. M.
Publicado no EJNMMI Res (2020)

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

por van Kuilenburg, André B. P., Meijer, Judith, Meinsma, Rutger, Pérez-Dueñas, Belén, Alders, Marielle, Bhuiyan, Zahurul A., Artuch, Rafael, Hennekam, Raoul C. M.
Publicado no JIMD Rep (2018)

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

por van der Pluijm, Marieke, Sutterland, Arjen L., van Kuilenburg, André B. P., Zoetekouw, Lida, de Haan, Lieuwe, Booij, Jan, van de Giessen, Elsmarieke
Publicado no Ther Adv Psychopharmacol (2019)

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

por 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
Publicado no Br J Clin Pharmacol (2016)

The Cytidine Analog Fluorocyclopentenylcytosine (RX-3117) Is Activated by Uridine-Cytidine Kinase 2

por 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.
Publicado no PLoS One (2016)

Long-Term Dose-Dependent Agalsidase Effects on Kidney Histology in Fabry Disease

por 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
Publicado no Clin J Am Soc Nephrol (2017)

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

por 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.
Publicado no Neurogenetics (2020)