Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients von Smid, Bouwien E, Rombach, Saskia M, Aerts, Johannes M F G, Kuiper, Symen, Mirzaian, Mina, Overkleeft, Hermen S, Poorthuis, Ben J H M, Hollak, Carla E M, Groener, Johanna E M, Linthorst, Gabor E

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Quantification of globotriaosylsphingosine in plasma and urine of fabry patients by stable isotope ultraperformance liquid chromatography-tandem mass spectrometry von Gold, Henrik, Mirzaian, Mina, Dekker, Nick, Joao Ferraz, Maria, Lugtenburg, Johan, Codée, Jeroen D C, van der Marel, Gijs A, Overkleeft, Herman S, Linthorst, Gabor E, Groener, Johanna E M, Aerts, Johannes M, Poorthuis, Ben J H M

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HPLC for Simultaneous Quantification of Total Ceramide, Glucosylceramide, and Ceramide Trihexoside Concentrations in Plasma von Groener, Johanna E.M, Poorthuis, Ben J.H.M, Kuiper, Sijmen, Helmond, Mariette T.J, Hollak, Carla E.M, Aerts, Johannes M.F.G

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Treatment of Fabry disease with different dosing regimens of agalsidase: Effects on antibody formation and GL-3 von Vedder, Anouk C., Breunig, Frank, Donker-Koopman, Wilma E., Mills, Kevin, Young, Elisabeth, Winchester, Bryan, Ten Berge, Ineke J.M., Groener, Johanna E.M., Aerts, Johannes M.F.G., Wanner, Christoph, Hollak, Carla E.M.

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Substrate reduction therapy of glycosphingolipid storage disorders von Aerts, Johannes M. F. G., Hollak, Carla E. M., Boot, Rolf G., Groener, Johanna E. M., Maas, Mario

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Gaucher disease due to saposin C deficiency, previously described as non-neuronopathic form — No positive effects after 2-years of miglustat therapy von Tylki-Szymańska, Anna, Groener, Johanna E.M., Kamiński, Marek Leszek, Ługowska, Agnieszka, Jurkiewicz, Elżbieta, Czartoryska, Barbara

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Deficiency in N-acetylgalactosamine-6-sulfate sulfatase results in collagen perturbations in cartilage of Morquio syndrome A patients von Bank, Ruud A., Groener, Johanna E.M., van Gemund, Justus J., Maaswinkel, Petra D., Hoeben, Kees A., Schut, Herman A., Everts, Vincent

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Hemolytic uremic syndrome attributable to streptococcus pneumoniae infection: A novel cause for secondary protein N-glycan abnormalities von DE LOOS, Femke, HUIJBEN, Karin M. L. C, VAN DER KAR, Nicole C. A. J, MONNENS, Leo A. H, VAN DEN HEUVEL, Lambertus P. W. J, GROENER, Johanna E. M, DE MOOR, Ronald A, WEVERS, Ron A

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Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy? von Bakker, H D, de Sonnaville, M L, Vreken, P, Abeling, N G, Groener, J E, Keulemans, J L, van Diggelen, O P

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Human [alpha]-N-acetylgalactosaminidase ([alpha]-NAGA) deficiency: no association with neuroaxonal dystrophy? von Bakker, Henk D, Marie-Louise CS de Sonnaville, Vreken, Peter, Abeling, Nico GGM, Groener, Johanna EM, Keulemans, Joke LM, van Diggelen, Otto P

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Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg von Vedder, Anouk C, Linthorst, Gabor E, Houge, Gunnar, Groener, Johannna E M, Ormel, Els E, Bouma, Berto J, Aerts, Johannes M F G, Hirth, Asle, Hollak, Carla E M

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Transglycosidase Activity of Chitotriosidase von Aguilera, Begoña, Ghauharali-van der Vlugt, Karen, Helmond, Mariette T.J., Out, Jos M.M., Donker-Koopman, Wilma E., Groener, Johanna E.M., Boot, Rolf G., Renkema, G.Herma, van der Marel, Gijs A., van Boom, Jacques H., Overkleeft, Hermen S., Aerts, Johannes M.F.G.

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