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Dive into the research topics where Rutger Meinsma is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders
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. & 23 others, , 1 Jun 2024, In: Genetics in medicine. 26, 6, 101104.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile40 Downloads (Pure) -
Lethal Capecitabine Toxicity in Patients with Complete Dihydropyrimidine Dehydrogenase Deficiency Due to Ultra-Rare DPYD Variants
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., 1 May 2024, In: JCO Precision Oncology. 8, e2300599.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile57 Downloads (Pure) -
Urinary 3-Methoxytyramine Is a Biomarker for MYC Activity in Patients With Neuroblastoma
Verly, I. R. N., Matser, Y. A. H., Leen, R., Meinsma, R., Fiocco, M., Koster, J., Volckmann, R., Savci-Heijink, D., Cangemi, G., Barco, S., Valentijn, L. J., Tytgat, G. A. M. & van Kuilenburg, A. B. P., 2022, In: JCO Precision Oncology. 6, e2000447.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile21 Downloads (Pure) -
β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity
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. R., Kaindl, A. M. & van Kuilenburg, A. B. P., Jul 2022, In: Molecular genetics and metabolism. 136, 3, p. 177-185 9 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile6 Downloads (Pure) -
Thrombocytopenia after meta-iodobenzylguanidine (MIBG) therapy in neuroblastoma patients may be caused by selective MIBG uptake via the serotonin transporter located on megakaryocytes
Blom, T., Meinsma, R., di Summa, F., van den Akker, E., van Kuilenburg, A. B. P., Hansen, M. & Tytgat, G. A. M., 2021, In: EJNMMI research. 11, 1, 81.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile16 Downloads (Pure)