All journal publications (1963-2013)

Found 6 results. Export: Tagged | XML
Sort by:[Year][Author]
Filters: author is Hollak  [Clear All Filters]
2011
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. , Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients, Orphanet Journal of Rare Diseases, vol. 6.
Dekker, N., van Dussen, L., Hollak, C.E.M., Overkleeft, H., Scheij, S., Ghauharali, K., van Breemen, M.J., Ferraz, M.J., Groener, J.E.M., Maas, M., Wijburg, F.A., Speijer, D., Tylki-Szymanska, A., Mistry, P.K., Boot, R.G., Aerts, J.M. , Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response, Blood, vol. 118, no. 16, pp. E118-E127.
Aerts, J.M., Kallemeijn, W.W., Wegdam, W., Joao Ferraz, M., van Breemen, M.J., Dekker, N., Kramer, G., Poorthuis, B.J., Groener, J.E., Cox-Brinkman, J., Rombach, S.M., Hollak, C.E., Linthorst, G.E., Witte, M.D., Gold, H., van der Marel, G.A., Overkleeft, H.S., Boot, R.G. , Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies, J Inherit Metab Dis, vol. 34, issue 3, pp. 99-119. DOI
Aerts, J.M.F.G., Kallemeijn, W.W., Wegdam, W., Ferraz, M.J., 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. , Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies, Journal of Inherited Metabolic Disease, vol. 34, no. 3, pp. 605-619. DOI
Dekker, N., Voorn-Brouwer, T., Verhoek, M., Wennekes, T., Narayan, R.S., Speijer, D., Hollak, C.E., Overkleeft, H.S., Boot, R.G., Aerts, J.M. , The cytosolic beta-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation, Blood Cells Mol Dis, vol. 46, no. 1, pp. 19-26. DOI
2010
Witte, M.D., Kallemeijn, W.W., Aten, J., Li, K.Y., Strijland, A., Donker-Koopman, W.E., van den Nieuwendijk, A., Bleijlevens, B., Kramer, G., Florea, B. I, Hooibrink, B., Hollak, C.E.M., Ottenhoff, R., Boot, R.G., van der Marel, G.A., Overkleeft, H.S., Aerts, J. , Ultrasensitive in situ visualization of active glucocerebrosidase molecules, Nature Chemical Biology, vol. 6, no. 12, pp. 907-913. DOI