Amsterdam Gastroenterology Endocrinology Metabolism
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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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Development of a Biosimilar of Agalsidase Beta for the Treatment of Fabry Disease: Preclinical Evaluation
van Kuilenburg, A. B. P., Hollak, C. E. M., Travella, A., Jacobs, M., Gentilini, L. D., Leen, R., der Vlugt, K. M. M. G., Stet, F. S. B., Goorden, S. M. I., van der Veen, S., Criscuolo, M. & Papouchado, M., Jun 2023, In: Drugs in R and D. 23, 2, p. 141-153 13 p.Research output: Contribution to journal › Article › Academic › peer-review
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Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation
Fazal, S., Danzi, M. C., van Kuilenburg, A. B. P., Reich, S., Trasch?tz, A., Bender, B., Leen, R., Toro, C., Usdin, K., Hayward, B., Adams, D. R., van Karnebeek, C. D. M., Ferreira, C. R., D'Sousa, P., Network, U. D., Tekin, M., Z?chner, S. & Synofzik, M., 1 Jan 2023, In: Human Molecular Genetics. 32, 1, p. 46-54 9 p.Research output: Contribution to journal › Article › Academic › peer-review
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