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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...
Autores principales: | Ferdinandusse, Sacha, Ebberink, Merel S., Vaz, Frédéric M., Waterham, Hans R., Wanders, Ronald J. A. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Netherlands
2016
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Materias: | |
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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