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Aerts, J. M. F. G., Kallemeijn, W. W., Wegdam, W., Joao Ferraz, M., van Breemen, M. J., Dekker, N., Kramer, G., Poorthuis, B. J., Groener, J. E. M., Cox-Brinkman, J., Rombach, S. M., Hollak, C. E. M., Linthorst, G. E., Witte, M. D., Gold, H., van der Marel, G. A., Overkleeft, H. S., & Boot, R. G. (2011). Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies. Journal of inherited metabolic disease, 34(3), 605-619. https://doi.org/10.1007/s10545-011-9308-6

Smid, B. E., Rombach, S. M., Aerts, J. M. F. G., Kuiper, S., Mirzaian, M., Overkleeft, H. S., Poorthuis, B. J. H. M., Hollak, C. E. M., Groener, J. E. M., & Linthorst, G. E. (2011). Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients. Orphanet Journal of Rare Diseases, 6(1), 69. https://doi.org/10.1186/1750-1172-6-69

Linthorst, G. E., Bouwman, M. G., Wijburg, F. A., Aerts, J. M. F. G., Poorthuis, B. J. H. M., & Hollak, C. E. M. (2010). Screening for Fabry disease in high-risk populations: a systematic review. Journal of Medical Genetics, 47(4), 217-222. https://doi.org/10.1136/jmg.2009.072116