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Open Access 01-06-2011 | SSIEM Symposium 2010

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

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

Published in: Journal of Inherited Metabolic Disease | Issue 3/2011

Abstract

A biomarker is an analyte indicating the presence of a biological process linked to the clinical manifestations and outcome of a particular disease. In the case of lysosomal storage disorders (LSDs), primary and secondary accumulating metabolites or proteins specifically secreted by storage cells are good candidates for biomarkers. Clinical applications of biomarkers are found in improved diagnosis, monitoring disease progression, and assessing therapeutic correction. These are illustrated by reviewing the discovery and use of biomarkers for Gaucher disease and Fabry disease. In addition, recently developed chemical tools allowing specific visualization of enzymatically active lysosomal glucocerebrosidase are described. Such probes, coined inhibodies, offer entirely new possibilities for more sophisticated molecular diagnosis, enzyme replacement therapy monitoring, and fundamental research.

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Title: Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies
Authors: Johannes M. F. G. Aerts
Wouter W. Kallemeijn
Wouter Wegdam
Maria Joao Ferraz
Marielle J. van Breemen
Nick Dekker
Gertjan Kramer
Ben J. Poorthuis
Johanna E. M. Groener
Josanne Cox-Brinkman
Saskia M. Rombach
Carla E. M. Hollak
Gabor E. Linthorst
Martin D. Witte
Henrik Gold
Gijs A. van der Marel
Herman S. Overkleeft
Rolf G. Boot
Publication date: 01-06-2011
Publisher: Springer Netherlands
Published in: Journal of Inherited Metabolic Disease / Issue 3/2011
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-011-9308-6

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