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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, 13 p., 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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