Gepubliceerd in:

01-02-2013

A lipidomics approach to identify disorders in phospholipid metabolism; MEGDEL syndrome unraveled

Auteurs: Frédéric M. Vaz, Saskia B. Wortmann, Antoine H.C. van Kampen, Eva Morava, Arjan P.M. de Brouwer, Ron A. Wevers, Willem Kulik, Ronald J.A. Wanders

Gepubliceerd in: Tijdschrift voor Kindergeneeskunde | bijlage 1/2013

Extract

The field of genomics has grown expansively in recent years producing vast amounts of data. However, genetic data are often insufficient to explain and understand complex clinical phenotypes. Metabolite profiling or metabolomics provides the bridge to interpret genetic data in the context of individual patients. …

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