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LiguoriLde LamirandeEMinelliAGagnonC

This review focuses on the pleiomorphic clinical presentations and the genetic substrate of FIC and proposes a possible diagnostic and therapeutic work-up for this group of diseases, considering the shared factors and therapeutic novelties that may affect them

Research has demonstrated that the copy number of mitochondrial DNA and the activity of mitochondrial enzymes are associated with OGA activity and the levels of OGT protein