Biomarkers for lysosomal storage disorders

Johannes M.F.G. Aerts; Maria Joao Ferraz; Rolf G. Boot; Marielle J. Van Breemen; Nick Dekker; Gertjan Kramer; Carla E.M. Hollak; Mario Maas; Gabor E. Linthorst; Bouwien Smid; Saskia M. Rombach; Laura Van Dussen; Ben Poorthuis; Johanna E.M. Groener

Biomarkers for lysosomal storage disorders

Johannes M.F.G. Aerts, Maria Joao Ferraz, Rolf G. Boot, Marielle J. Van Breemen, Nick Dekker, Gertjan Kramer, Carla E.M. Hollak, Mario Maas, Gabor E. Linthorst, Bouwien Smid, Saskia M. Rombach, Laura Van Dussen, Ben Poorthuis, Johanna E.M. Groener

Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review

Abstract

A biomarker is an analyte that indicates 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), accumulating metabolites and their secondary products or proteins specifically secreted by storage cells are good candidates for biomarkers. Clinical applications of biomarkers are found in improved diagnosis, monitoring of disease progression and assessment of therapeutic correction. In this chapter, these applications are illustrated by reviewing the discovery and use of biomarkers for Gaucher disease and Fabry disease.

Original language	English
Title of host publication	Neurochemistry of Metabolic Diseases
Subtitle of host publication	Lysosomal Storage Diseases, Phenylketonuria and Canavan Disease
Publisher	NOVA Science publishers, Inc.
Pages	169-202
Number of pages	34
ISBN (Print)	9781612096711
Publication status	Published - Jan 2013

Cite this

Aerts, J. M. F. G., Ferraz, M. J., Boot, R. G., Van Breemen, M. J., Dekker, N., Kramer, G., Hollak, C. E. M., Maas, M., Linthorst, G. E., Smid, B., Rombach, S. M., Van Dussen, L., Poorthuis, B., & Groener, J. E. M. (2013). Biomarkers for lysosomal storage disorders. In Neurochemistry of Metabolic Diseases: Lysosomal Storage Diseases, Phenylketonuria and Canavan Disease (pp. 169-202). NOVA Science publishers, Inc..

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abstract = "A biomarker is an analyte that indicates 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), accumulating metabolites and their secondary products or proteins specifically secreted by storage cells are good candidates for biomarkers. Clinical applications of biomarkers are found in improved diagnosis, monitoring of disease progression and assessment of therapeutic correction. In this chapter, these applications are illustrated by reviewing the discovery and use of biomarkers for Gaucher disease and Fabry disease.",

author = "Aerts, {Johannes M.F.G.} and Ferraz, {Maria Joao} and Boot, {Rolf G.} and {Van Breemen}, {Marielle J.} and Nick Dekker and Gertjan Kramer and Hollak, {Carla E.M.} and Mario Maas and Linthorst, {Gabor E.} and Bouwien Smid and Rombach, {Saskia M.} and {Van Dussen}, Laura and Ben Poorthuis and Groener, {Johanna E.M.}",

year = "2013",

month = jan,

language = "English",

isbn = "9781612096711",

pages = "169--202",

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Aerts, JMFG, Ferraz, MJ, Boot, RG, Van Breemen, MJ, Dekker, N, Kramer, G, Hollak, CEM , Maas, M , Linthorst, GE, Smid, B, Rombach, SM, Van Dussen, L, Poorthuis, B & Groener, JEM 2013, Biomarkers for lysosomal storage disorders. in Neurochemistry of Metabolic Diseases: Lysosomal Storage Diseases, Phenylketonuria and Canavan Disease. NOVA Science publishers, Inc., pp. 169-202.

TY - CHAP

T1 - Biomarkers for lysosomal storage disorders

AU - Aerts, Johannes M.F.G.

AU - Ferraz, Maria Joao

AU - Boot, Rolf G.

AU - Van Breemen, Marielle J.

AU - Dekker, Nick

AU - Kramer, Gertjan

AU - Hollak, Carla E.M.

AU - Maas, Mario

AU - Linthorst, Gabor E.

AU - Smid, Bouwien

AU - Rombach, Saskia M.

AU - Van Dussen, Laura

AU - Poorthuis, Ben

AU - Groener, Johanna E.M.

PY - 2013/1

Y1 - 2013/1

N2 - A biomarker is an analyte that indicates 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), accumulating metabolites and their secondary products or proteins specifically secreted by storage cells are good candidates for biomarkers. Clinical applications of biomarkers are found in improved diagnosis, monitoring of disease progression and assessment of therapeutic correction. In this chapter, these applications are illustrated by reviewing the discovery and use of biomarkers for Gaucher disease and Fabry disease.

AB - A biomarker is an analyte that indicates 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), accumulating metabolites and their secondary products or proteins specifically secreted by storage cells are good candidates for biomarkers. Clinical applications of biomarkers are found in improved diagnosis, monitoring of disease progression and assessment of therapeutic correction. In this chapter, these applications are illustrated by reviewing the discovery and use of biomarkers for Gaucher disease and Fabry disease.

UR - http://www.scopus.com/inward/record.url?scp=84895363762&partnerID=8YFLogxK

M3 - Chapter

SN - 9781612096711

SP - 169

EP - 202

BT - Neurochemistry of Metabolic Diseases

PB - NOVA Science publishers, Inc.

ER -

Biomarkers for lysosomal storage disorders

Abstract

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