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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
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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
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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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