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Open Access 01-07-2016 | SSIEM 2015

The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders

Authors: Sacha Ferdinandusse, Merel S. Ebberink, Frédéric M. Vaz, Hans R. Waterham, Ronald J. A. Wanders

Published in: Journal of Inherited Metabolic Disease | Issue 4/2016

Abstract

Peroxisomes are dynamic organelles that play an essential role in a variety of metabolic pathways. Peroxisomal dysfunction can lead to various biochemical abnormalities and result in abnormal metabolite levels, such as increased very long-chain fatty acid or reduced plasmalogen levels. The metabolite abnormalities in peroxisomal disorders are used in the diagnostics of these disorders. In this paper we discuss in detail the different diagnostic tests available for peroxisomal disorders and focus specifically on the important role of biochemical and functional studies in cultured skin fibroblasts in reaching the right diagnosis. Several examples are shown to underline the power of such studies.

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Title: The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders
Authors: Sacha Ferdinandusse
Merel S. Ebberink
Frédéric M. Vaz
Hans R. Waterham
Ronald J. A. Wanders
Publication date: 01-07-2016
Publisher: Springer Netherlands
Published in: Journal of Inherited Metabolic Disease / Issue 4/2016
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-016-9922-4

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