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

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

doi:https://doi.org/10.1007/s10545-016-9922-4

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

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

Research output: Contribution to journal › Article › Academic › peer-review

45 Citations (Scopus)

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

Original language	English
Pages (from-to)	531-543
Journal	Journal of Inherited Metabolic Disease
Volume	39
Issue number	4
DOIs	https://doi.org/10.1007/s10545-016-9922-4
Publication status	Published - 2016

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https://doi.org/10.1007/s10545-016-9922-4

Cite this

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title = "The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders",

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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AU - Ebberink, Merel S.

AU - Vaz, Frédéric M.

AU - Waterham, Hans R.

AU - Wanders, Ronald J. A.

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AB - 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

U2 - https://doi.org/10.1007/s10545-016-9922-4

DO - https://doi.org/10.1007/s10545-016-9922-4

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