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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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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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Children with atopic dermatitis show increased activity of β-glucocerebrosidase and stratum corneum levels of glucosylcholesterol that are strongly related to the local cytokine milieu
Kezic, S., McAleer, M. A., Jakasa, I., Goorden, S. M. I., der Vlugt, K. G. V., Beers-Stet, F. S., Meijer, J., Roelofsen, J., Nieman, M. M., van Kuilenburg, A. B. P. & Irvine, A. D., Jun 2022, In: British Journal of Dermatology. 186, 6, p. 988-996 9 p.Research output: Contribution to journal › Article › Academic › peer-review
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