Quantification of sulfatides and lysosulfatides in tissues and body fluids by liquid chromatography-tandem mass spectrometry

Por Mirzaian, Mina, Kramer, Gertjan, Poorthuis, Ben J. H. M.
Publicado no J Lipid Res (2015)

Analysis of urinary oligosaccharides in lysosomal storage disorders by capillary high-performance anion-exchange chromatography–mass spectrometry

Por Bruggink, Cees, Poorthuis, Ben J. H. M., Deelder, André M., Wuhrer, Manfred
Publicado em 2012

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype

Por Valstar, Marlies J., Bruggenwirth, Hennie T., Olmer, Renske, Wevers, Ron A., Verheijen, Frans W., Poorthuis, Ben J., Halley, Dicky J., Wijburg, Frits A.
Publicado em 2010

Long-Term Effect of Antibodies against Infused Alpha-Galactosidase A in Fabry Disease on Plasma and Urinary (lyso)Gb3 Reduction and Treatment Outcome

Por Rombach, Saskia M., Aerts, Johannes M. F. G., Poorthuis, Ben J. H. M., Groener, Johanna E. M., Donker-Koopman, Wilma, Hendriks, Erik, Mirzaian, Mina, Kuiper, Sijmen, Wijburg, Frits A., Hollak, Carla E. M., Linthorst, Gabor E.
Publicado em 2012

Elevated globotriaosylsphingosine is a hallmark of Fabry disease

Por Aerts, Johannes M., Groener, Johanna E., Kuiper, Sijmen, Donker-Koopman, Wilma E., Strijland, Anneke, Ottenhoff, Roelof, van Roomen, Cindy, Mirzaian, Mina, Wijburg, Frits A., Linthorst, Gabor E., Vedder, Anouk C., Rombach, Saskia M., Cox-Brinkman, Josanne, Somerharju, Pentti, Boot, Rolf G., Hollak, Carla E., Brady, Roscoe O., Poorthuis, Ben J.
Publicado em 2008

Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies

Por Aerts, Johannes M. F. G., Kallemeijn, Wouter W., Wegdam, Wouter, Joao Ferraz, Maria, van Breemen, Marielle J., Dekker, Nick, Kramer, Gertjan, Poorthuis, Ben J., Groener, Johanna E. M., Cox-Brinkman, Josanne, Rombach, Saskia M., Hollak, Carla E. M., Linthorst, Gabor E., Witte, Martin D., Gold, Henrik, van der Marel, Gijs A., Overkleeft, Herman S., Boot, Rolf G.
Publicado em 2011

Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)

Por Hřebíček, Martin, Mrázová, Lenka, Seyrantepe, Volkan, Durand, Stéphanie, Roslin, Nicole M., Nosková, Lenka, Hartmannová, Hana, Ivánek, Robert, Čížková, Alena, Poupětová, Helena, Sikora, Jakub, Uřinovská, Jana, Stránecký, Viktor, Zeman, Jiří, Lepage, Pierre, Roquis, David, Verner, Andrei, Ausseil, Jérôme, Beesley, Clare E., Maire, Irène, Poorthuis, Ben J. H. M., van de Kamp, Jiddeke, van Diggelen, Otto P., Wevers, Ron A., Hudson, Thomas J., Fujiwara, T. Mary, Majewski, Jacek, Morgan, Kenneth, Kmoch, Stanislav, Pshezhetsky, Alexey V.
Publicado em 2006