Cancer Center Amsterdam
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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
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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
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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
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