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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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Detalles Bibliográficos
Publicado en:J Inherit Metab Dis
Autores principales: Ferdinandusse, Sacha, Ebberink, Merel S., Vaz, Frédéric M., Waterham, Hans R., Wanders, Ronald J. A.
Formato: Artigo
Lenguaje:Inglês
Publicado: Springer Netherlands 2016
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4920857/
https://ncbi.nlm.nih.gov/pubmed/26943801
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-016-9922-4
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