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

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 metabolit...

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Autores principales: Ferdinandusse, Sacha, Ebberink, Merel S., Vaz, Frédéric M., Waterham, Hans R., Wanders, Ronald J. A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2016
Materias:
Ssiem 2015
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4920857/
https://www.ncbi.nlm.nih.gov/pubmed/26943801
http://dx.doi.org/10.1007/s10545-016-9922-4
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author Ferdinandusse, Sacha
Ebberink, Merel S.
Vaz, Frédéric M.
Waterham, Hans R.
Wanders, Ronald J. A.
author_facet Ferdinandusse, Sacha
Ebberink, Merel S.
Vaz, Frédéric M.
Waterham, Hans R.
Wanders, Ronald J. A.
author_sort Ferdinandusse, Sacha
collection PubMed
description 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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spelling pubmed-49208572016-07-12 The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders Ferdinandusse, Sacha Ebberink, Merel S. Vaz, Frédéric M. Waterham, Hans R. Wanders, Ronald J. A. J Inherit Metab Dis Ssiem 2015 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. Springer Netherlands 2016-03-04 2016 /pmc/articles/PMC4920857/ /pubmed/26943801 http://dx.doi.org/10.1007/s10545-016-9922-4 Text en © The Author(s) 2016 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
spellingShingle Ssiem 2015
Ferdinandusse, Sacha
Ebberink, Merel S.
Vaz, Frédéric M.
Waterham, Hans R.
Wanders, Ronald J. A.
The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders
title The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders
title_full The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders
title_fullStr The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders
title_full_unstemmed The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders
title_short The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders
title_sort important role of biochemical and functional studies in the diagnostics of peroxisomal disorders
topic Ssiem 2015
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4920857/
https://www.ncbi.nlm.nih.gov/pubmed/26943801
http://dx.doi.org/10.1007/s10545-016-9922-4
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