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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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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Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure
Pérez-Torras, S., Mata-Ventosa, A., Drögemöller, B., Tarailo-Graovac, M., Meijer, J., Meinsma, R., van Cruchten, A. G., Kulik, W., Viel-Oliva, A., Bidon-Chanal, A., Ross, C. J., Wassermann, W. W., van Karnebeek, C. D. M., Pastor-Anglada, M. & van Kuilenburg, A. B. P., 1 Jun 2019, In: Biochimica et Biophysica Acta-Molecular Basis of Disease. 1865, 6, p. 1182-1191 10 p.Research output: Contribution to journal › Article › Academic › peer-review
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