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

by Sanna Puusepp, Karit Reinson, Sander Pajusalu, André B.P. van Kuilenburg, Doreen Dobritzsch, Jeroen Roelofsen, Werner Stenzel, Katrin Õunap
Published 2020-12-01

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

by Yoko Nakajima, Judith Meijer, Chunhua Zhang, Xu Wang, Tomomi Kondo, Tetsuya Ito, Doreen Dobritzsch, André B. P. Van Kuilenburg
Published 2016-01-01

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

by Jan Stautemas, André B. P. Van Kuilenburg, Lida Stroomer, Fred Vaz, Laura Blancquaert, Filip B. D. Lefevere, Inge Everaert, Wim Derave
Published 2019-09-01

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

by Thomas Blom, Rutger Meinsma, Marja Rutgers, Corine Buitenhuis, Marieke Dekken-Van den Burg, André B. P. van Kuilenburg, Godelieve A. M. Tytgat
Published 2020-07-01

Thrombocytopenia after meta-iodobenzylguanidine (MIBG) therapy in neuroblastoma patients may be caused by selective MIBG uptake via the serotonin transporter located on megakaryocy...

by Thomas Blom, Rutger Meinsma, Franca di Summa, Emile van den Akker, André B. P. van Kuilenburg, Marten Hansen, Godelieve A. M. Tytgat
Published 2021-08-01

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

by Marieke van der Pluijm, Arjen L. Sutterland, André B. P. van Kuilenburg, Lida Zoetekouw, Lieuwe de Haan, Jan Booij, Elsmarieke van de Giessen
Published 2019-09-01

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

by Dzjemma Sarkisjan, Joris R Julsing, Kees Smid, Daniël de Klerk, André B P van Kuilenburg, Rutger Meinsma, Young B Lee, Deog J Kim, Godefridus J Peters
Published 2016-01-01

Diagnostic and Therapeutic Strategies for Fluoropyrimidine Treatment of Patients Carrying Multiple <i>DPYD</i> Variants

by Carin A. T. C. Lunenburg, Linda M. Henricks, André B. P. van Kuilenburg, Ron H. J. Mathijssen, Jan H. M. Schellens, Hans Gelderblom, Henk-Jan Guchelaar, Jesse J. Swen
Published 2018-11-01

Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors.

by Maarten Arends, Marieke Biegstraaten, Derralynn A Hughes, Atul Mehta, Perry M Elliott, Daniel Oder, Oliver T Watkinson, Frédéric M Vaz, André B P van Kuilenburg, Christoph Wanner, Carla E M Hollak
Published 2017-01-01

Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency)

by Nina Lenherr, John Christodoulou, John Duley, Doreen Dobritzsch, Lynette Fairbanks, Alexandre N. Datta, Isabel Filges, Nicolas Gürtler, Jeroen Roelofsen, André B.P. van Kuilenburg, Claudia Kemper, Erin E. West, Gabor Szinnai, Martina Huemer
Published 2021-03-01

Predicting the Development of Anti-Drug Antibodies against Recombinant alpha-Galactosidase A in Male Patients with Classical Fabry Disease

by Sanne J. van der Veen, Wytze J. Vlietstra, Laura van Dussen, André B.P. van Kuilenburg, Marcel G. W. Dijkgraaf, Malte Lenders, Eva Brand, Christoph Wanner, Derralynn Hughes, Perry M. Elliott, Carla E. M. Hollak, Mirjam Langeveld
Published 2020-08-01

Hydrogen sulfide donor NaHS reduces organ injury in a rat model of pneumococcal pneumosepsis, associated with improved bio-energetic status.

by Hamid Aslami, Wilco P Pulskens, Maria T Kuipers, Aafkeline P Bos, André B P van Kuilenburg, Ronald J A Wanders, Jeroen Roelofsen, Joris J T H Roelofs, Raphaela P Kerindongo, Charlotte J P Beurskens, Marcus J Schultz, Wim Kulik, Nina C Weber, Nicole P Juffermans
Published 2013-01-01

DNA damage and transcription stress cause ATP-mediated redesign of metabolism and potentiation of anti-oxidant buffering

by Chiara Milanese, Cíntia R. Bombardieri, Sara Sepe, Sander Barnhoorn, César Payán-Goméz, Donatella Caruso, Matteo Audano, Silvia Pedretti, Wilbert P. Vermeij, Renata M. C. Brandt, Akos Gyenis, Mirjam M. Wamelink, Annelieke S. de Wit, Roel C. Janssens, René Leen, André B. P. van Kuilenburg, Nico Mitro, Jan H. J. Hoeijmakers, Pier G. Mastroberardino
Published 2019-10-01