Sökning: "Camilla Maffezzini"
Hittade 1 avhandling innehållade orden Camilla Maffezzini.
1. Metabolic disorders : genes and mechanisms
Sammanfattning : Mitochondrial disorders constitute a subgroup of the large family of rare monogenic diseases called Inborn Errors of Metabolism (IEM), but defects in mitochondrial activity have also been reported in more common and complex pathologies. In the present thesis, I validate new disease-causing variants and study the underlying molecular defects in three different cases of IEM. LÄS MER
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