المؤلفون: Eskes, Eline C. B., van Dussen, Laura, Brands, Marion M. M. G., Vaz, Frédéric M., Aerts, Johannes M. F. G., van Kuilenburg, André B. P., Sjouke, Barbara, Hollak, Carla E. M.

المصدر: Journal of Inherited Metabolic Disease ; volume 48, issue 1 ; ISSN 0141-8955 1573-2665

الاتاحة: https://doi.org/10.1002/jimd.12789
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12789

المؤلفون: van Kuilenburg, André B P, Pleunis-van Empel, Marjolein C H, Brouwer, Rick B, Sijben, Angelique E J, Knapen, Daan G, Oude Munnink, Thijs H, van Zanden, Jelmer J, Janssens-Puister, Jenny, Dobritzsch, Doreen, Meinsma, Rutger, Meijer-Jansen, Judith, van Dooren, Silvy J M, Vijzelaar, Raymon, Pop, Ana, Salomons, Gajja S, Maring, Jan Gerard, Niezen-Koning, Klary E

المصدر: van Kuilenburg , A B P , Pleunis-van Empel , M C H , Brouwer , R B , Sijben , A E J , Knapen , D G , Oude Munnink , T H , van Zanden , J J , Janssens-Puister , J , Dobritzsch , D , Meinsma , R , Meijer-Jansen , J , van Dooren , S J M , Vijzelaar , R , Pop , A , Salomons , G S , Maring , J G & Niezen-Koning , K E 2024 , ' Lethal Capecitabine Toxicity in Patients With Complete Dihydropyrimidine Dehydrogenase ....

مصطلحات موضوعية: Humans, Dihydropyrimidine Dehydrogenase Deficiency/genetics, Capecitabine/adverse effects, Dihydrouracil Dehydrogenase (NADP)/genetics, Antimetabolites, Antineoplastic/adverse effects, Male, Female, Fatal Outcome, Middle Aged

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/34a4f97c-1a9c-42f9-8b8b-b30caf7a95a8
https://research.rug.nl/en/publications/34a4f97c-1a9c-42f9-8b8b-b30caf7a95a8
https://doi.org/10.1200/PO.23.00599
https://pure.rug.nl/ws/files/1134439392/et-al-2024-lethal-capecitabine-toxicity-in-patients-with-complete-dihydropyrimidine-dehydrogenase-deficiency-due-to.pdf

المؤلفون: van Karnebeek, Clara D. M., Tarailo-Graovac, Maja, Leen, René, Meinsma, Rutger, Correard, Solenne, Jansen-Meijer, Judith, Prykhozhij, Sergey V., Pena, Izabella A., Ban, Kevin, Schock, Sarah, Saxena, Vishal, Pras-Raves, Mia L., Drögemöller, Britt I., Grootemaat, Anita E., van der Wel, Nicole N., Dobritzsch, Doreen, Roseboom, Winfried, Schomakers, Bauke V., Jaspers, Yorrick R. J., Zoetekouw, Lida, Roelofsen, Jeroen, Ferreira, Carlos R., van der Lee, Robin, Ross, Colin J., Kochan, Jakub, McIntyre, Rebecca L., van Klinken, Jan B., van Weeghel, Michel, Kramer, Gertjan, Weschke, Bernhard, Labrune, Philippe, Willemsen, Michèl A., Riva, Daria, Garavaglia, Barbara, Moeschler, John B., Filiano, James J., Ekker, Marc, Berman, Jason N., Dyment, David, Vaz, Frédéric M., Wassermann, Wyeth W., Houtkooper, Riekelt H., van Kuilenburg, André B. P.

المصدر: van Karnebeek , C D M , Tarailo-Graovac , M , Leen , R , Meinsma , R , Correard , S , Jansen-Meijer , J , Prykhozhij , S V , Pena , I A , Ban , K , Schock , S , Saxena , V , Pras-Raves , M L , Drögemöller , B I , Grootemaat , A E , van der Wel , N N , Dobritzsch , D , Roseboom , W , Schomakers , B V , Jaspers , Y R J , Zoetekouw , L , Roelofsen , J , Ferreira ....

الاتاحة: https://research.vumc.nl/en/publications/504f73d5-0b75-455e-b9c5-41f293789b8c
https://doi.org/10.1016/j.gim.2024.101104
http://www.scopus.com/inward/record.url?scp=85189951629&partnerID=8YFLogxK

المؤلفون: Eskes, Eline C. B., van Dussen, Laura, Aerts, Johannes M. F. G., van der Lienden, Martijn J. C., Maas, Mario, Akkerman, Erik M., van Kuilenburg, André B. P., Sjouke, Barbara, Hollak, Carla E. M.

المصدر: JIMD Reports ; ISSN 2192-8312 2192-8312

الاتاحة: http://dx.doi.org/10.1002/jmd2.12420
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12420

المؤلفون: Matser, Yvette A. H., Verly, Iedan R. N., van der Ham, Maria, de Sain‐van der Velden, Monique G. M., Verhoeven‐Duif, Nanda M., Ash, Shifra, Cangemi, Giuliana, Barco, Sebastiano, Popovic, Maja Beck, van Kuilenburg, André B. P., Tytgat, Godelieve A. M.

المصدر: Pediatric Blood & Cancer ; volume 70, issue 6 ; ISSN 1545-5009 1545-5017

الاتاحة: http://dx.doi.org/10.1002/pbc.30289
https://onlinelibrary.wiley.com/doi/pdf/10.1002/pbc.30289

المؤلفون: Eyskens, Margot, Bruyndonckx, Luc, Van Kuilenburg, André B. P., Eyskens, François

المصدر: JIMD Reports ; volume 64, issue 2, page 156-160 ; ISSN 2192-8312 2192-8312

الاتاحة: http://dx.doi.org/10.1002/jmd2.12357
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12357
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/jmd2.12357

المؤلفون: van Kuilenburg, André B. P., Hollak, Carla E. M., Travella, Ana, Jacobs, Melisa, Gentilini, Lucas D., Leen, René, der Vlugt, Karen M. M. Ghauharali-van, Stet, Femke S. Beers, Goorden, Susan M. I., van der Veen, Sanne, Criscuolo, Marcelo, Papouchado, Mariana

المساهمون: Biosidus, Vriendenloterij

المصدر: Drugs in R&D ; volume 23, issue 2, page 141-153 ; ISSN 1174-5886 1179-6901

الاتاحة: http://dx.doi.org/10.1007/s40268-023-00421-x
https://link.springer.com/content/pdf/10.1007/s40268-023-00421-x.pdf
https://link.springer.com/article/10.1007/s40268-023-00421-x/fulltext.html

المؤلفون: 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

المساهمون: Le Teuff, Gwénaël, Cozic, Nathalie, Boyer, Jean-Christophe, Boige, Valérie, Diasio, Robert B, Taieb, Julien, Meulendijks, Didier, Palles, Claire, Schwab, Matthia, 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

مصطلحات موضوعية: Dihydropyrimidine dehydrogenase, gene variant, biomarker, fluoropyrimidine, severe toxicity, meta-analysis

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/38225422; info:eu-repo/semantics/altIdentifier/wos/WOS:001143507000001; volume:130; issue:5; firstpage:808; lastpage:818; numberofpages:11; journal:BRITISH JOURNAL OF CANCER; https://hdl.handle.net/11568/1219599

الاتاحة: https://hdl.handle.net/11568/1219599
https://doi.org/10.1038/s41416-023-02517-2

المؤلفون: Hermans, Merel E., van Weeghel, Michel, Vaz, Frédéric M., Ferdinandusse, Sacha, Hollak, Carla E. M., Huidekoper, Hidde H., Janssen, Mirian C. H., van Kuilenburg, André B. P., Pras-Raves, Mia L., Wamelink, Mirjam M. C., Wanders, Ronald J. A., Welsink-Karssies, Mendy M., Bosch, Annet M.

المصدر: Hermans , M E , van Weeghel , M , Vaz , F M , Ferdinandusse , S , Hollak , C E M , Huidekoper , H H , Janssen , M C H , van Kuilenburg , A B P , Pras-Raves , M L , Wamelink , M M C , Wanders , R J A , Welsink-Karssies , M M & Bosch , A M 2022 , ' Multi-omics in classical galactosemia : Evidence for the involvement of multiple metabolic pathways ' , Journal of Inherited Metabolic Disease , vol. 45 , no. 6 , ....

الاتاحة: https://research.vumc.nl/en/publications/bb30ebfc-79ab-4adc-bb4c-03cbc9a0c7d9
https://doi.org/10.1002/jimd.12548
http://www.scopus.com/inward/record.url?scp=85137061557&partnerID=8YFLogxK

المؤلفون: Dobritzsch, Doreen, Meijer, Judith, Meinsma, Rutger, Maurer, Dirk, Monavari, Ardeshir A, Gummesson, Anders, Reims, Annika, Cayuela, Jorge A, Kuklina, Natalia, Benoist, Jean-François, Perrin, Laurence, Assmann, Birgit, Hoffmann, Georg F, Bierau, Jörgen, Kaindl, Angela M, van Kuilenburg, André B P

المصدر: Dobritzsch , D , Meijer , J , Meinsma , R , Maurer , D , Monavari , A A , Gummesson , A , Reims , A , Cayuela , J A , Kuklina , N , Benoist , J-F , Perrin , L , Assmann , B , Hoffmann , G F , Bierau , J , Kaindl , A M & van Kuilenburg , A B P 2022 , ' β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity ' , Molecular Genetics and Metabolism , ....

مصطلحات موضوعية: ALANINE SYNTHASE, AMINOISOBUTYRIC ACID, CARNOSINE, CRYSTAL-STRUCTURE, Crystal structure, DIHYDROPYRIMIDINE DEHYDROGENASE, Functional and structural protein analysis, GENETIC-ANALYSIS, HOMOCARNOSINE, MECHANISMS, Minigene approach, Neurological abnormalities, PURIFICATION, UPB1, WHITE FAT, beta-Ureidopropionase

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/7792a852-54e9-44e1-97d9-21d5f805ef85
https://doi.org/10.1016/j.ymgme.2022.01.102

المؤلفون: de With, Mirjam, Knikman, Jonathan, de Man, Femke M., Lunenburg, Carin A. T. C., Henricks, Linda M., van Kuilenburg, André B. P., Maring, Jan G., van Staveren, Maurice C., de Vries, Niels, Rosing, Hilde, Beijnen, Jos H., Pluim, Dick, Modak, Anil, Imholz, Alex L. T., van Schaik, Ron H. N., Schellens, Jan H. M., Gelderblom, Hans, Cats, Annemieke, Guchelaar, Henk‐Jan, Mathijssen, Ron H. J., Swen, Jesse J., Meulendijks, Didier

المساهمون: KWF Kankerbestrijding

المصدر: Clinical Pharmacology & Therapeutics ; volume 112, issue 1, page 62-68 ; ISSN 0009-9236 1532-6535

الاتاحة: http://dx.doi.org/10.1002/cpt.2608
https://onlinelibrary.wiley.com/doi/pdf/10.1002/cpt.2608
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/cpt.2608
https://ascpt.onlinelibrary.wiley.com/doi/pdf/10.1002/cpt.2608

المؤلفون: Hayward, Bruce, Kumari, Daman, Santra, Saikat, van Karnebeek, Clara D. M., van Kuilenburg, André B. P., Usdin, Karen

المصدر: Scientific Reports; 6/14/2024, Vol. 14 Issue 1, p1-10, 10p

مصطلحات موضوعية: HUMAN stem cells, INDUCED pluripotent stem cells, PLURIPOTENT stem cells, MICROSATELLITE repeats, CRISPRS, DEVELOPMENTAL delay

المؤلفون: Lenherr, Nina, Christodoulou, John, Duley, John, Dobritzsch, Doreen, Fairbanks, Lynette, Datta, Alexandre N., Filges, Isabel, Gürtler, Nicolas, Roelofsen, Jeroen, van Kuilenburg, Andre B. P., Kemper, Claudia, West, Erin E., Szinnai, Gabor, Huemer, Martina

مصطلحات موضوعية: Medical Genetics, Medicinsk genetik, Cell and Molecular Biology, Cell- och molekylärbiologi

وصف الملف: application/pdf

Relation: Molecular Genetics and Metabolism Reports, 2021, 26; PMID 33532242; ISI:000618816000014

الاتاحة: http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-440461
https://doi.org/10.1016/j.ymgmr.2021.100709

المؤلفون: Blom, Thomas, Meinsma, Rutger, di Summa, Franca, van den Akker, Emile, van Kuilenburg, André B. P., Hansen, Marten, Tytgat, Godelieve A. M.

المساهمون: Stichting Zeldzame Ziekten Fonds

المصدر: EJNMMI Research ; volume 11, issue 1 ; ISSN 2191-219X

الاتاحة: http://dx.doi.org/10.1186/s13550-021-00823-5
https://link.springer.com/content/pdf/10.1186/s13550-021-00823-5.pdf
https://link.springer.com/article/10.1186/s13550-021-00823-5/fulltext.html

المؤلفون: Righetti, Sarah, Allcock, Richard J. N., Yaplito-Lee, Joy, Adams, Louisa, Ellaway, Carolyn, Jones, Kristi J., Selvanathan, Arthavan, Fletcher, Janice, Pitt, James, van Kuilenburg, André B. P., Delatycki, Martin B., Laing, Nigel G., Kirk, Edwin P.

المساهمون: Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology Endocrinology Metabolism

المصدر: Molecular genetics and metabolism, 137(1-2), 62-67. Academic Press Inc.

مصطلحات موضوعية: Literature review, Purine-Pyrimidine Metabolism, Inborn Errors, Brain Diseases, Movement Disorders, Carrier frequency, Endocrinology, Diabetes and Metabolism, UPB1, Beta-ureidopropionase deficiency, Biochemistry, Phenotype, Endocrinology, β-ureidopropionase, Genetics, Humans, Variant, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef2ffb0acc2a4af0f41d503499b2644d
http://www.scopus.com/inward/record.url?scp=85135508068&partnerID=8YFLogxK

المؤلفون: Puusepp, Sanna, Reinson, Karit, Pajusalu, Sander, van Kuilenburg, Andre B. P., Dobritzsch, Doreen, Roelofsen, Jeroen, Stenzel, Werner, Õunap, Katrin

مصطلحات موضوعية: PRPS1, Arts syndrome, Purines, Autophagy, Medical Genetics, Medicinsk genetik

وصف الملف: application/pdf

Relation: Molecular Genetics and Metabolism Reports, 2020, 25; PMID 33294372; ISI:000600655200043

الاتاحة: http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-433034
https://doi.org/10.1016/j.ymgmr.2020.100677

المؤلفون: van der Veen, Sanne J., Hollak, Carla E. M., van Kuilenburg, André B. P., Langeveld, Mirjam

المصدر: Journal of Inherited Metabolic Disease ; volume 43, issue 5, page 908-921 ; ISSN 0141-8955 1573-2665

الاتاحة: http://dx.doi.org/10.1002/jimd.12228
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fjimd.12228
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12228
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/jimd.12228

المؤلفون: Blom, Thomas, Meinsma, Rutger, Rutgers, Marja, Buitenhuis, Corine, Dekken-Van den Burg, Marieke, van Kuilenburg, André B. P., Tytgat, Godelieve A. M.

المساهمون: Foundation for Pediatric Cancer Research, Dutch Cancer Society, European Community

المصدر: EJNMMI Research ; volume 10, issue 1 ; ISSN 2191-219X

الاتاحة: http://dx.doi.org/10.1186/s13550-020-00662-w
https://link.springer.com/content/pdf/10.1186/s13550-020-00662-w.pdf
https://link.springer.com/article/10.1186/s13550-020-00662-w/fulltext.html

المؤلفون: van Kuilenburg, André B P, Dobritzsch, Doreen, 1972, 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

المصدر: Biochimica et Biophysica Acta. 1822(7):1096-108

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-214417
https://doi.org/10.1016/j.bbadis.2012.04.001

المؤلفون: van der Pluijm, Marieke, Sutterland, Arjen L, van Kuilenburg, André B P, Zoetekouw, Lida, de Haan, Lieuwe, Booij, Jan, van de Giessen, Elsmarieke

المصدر: van der Pluijm , M , Sutterland , A L , van Kuilenburg , A B P , Zoetekouw , L , de Haan , L , Booij , J & van de Giessen , E 2019 , ' Plasma dopa decarboxylase activity in treatment-resistant recent-onset psychosis patients ' , Therapeutic advances in psychopharmacology , vol. 9 , pp. 2045125319872341 . https://doi.org/10.1177/2045125319872341 , https://doi.org/10.1177/2045125319872341

Relation: https://research.vumc.nl/en/publications/1867125e-138f-42c8-b3c0-07cfaec0ed1a

الاتاحة: https://research.vumc.nl/en/publications/1867125e-138f-42c8-b3c0-07cfaec0ed1a
https://doi.org/10.1177/2045125319872341
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85174254083&origin=inward