Rossi, NiccolòBourbon, Mafalda2016-02-122016-02-122015-01-16http://hdl.handle.net/10400.18/3281Objectives: The main objective of my work is to fill the gap existing between clinical and genetic diagnosis of dyslipidemia disorders and to get a deeper insight into its variability of expression through NGS, microRNA (miRNA) profiling and omic data integration approaches. Familial hypercholesterolemia (FH) is still largely underdiagnosed and undertreated: this work could greatly contribute to the early and definite diagnosis of the disease with a potential application for targeted therapy.engDoenças Cardio e Cérebro-vascularesLipid Metabolism DisruptionFamilial HypercholesterolemiaIdentifcation and characterization of the cause of lipid metabolism disruption in patients with severe and unexplained familial dyslipidaemiaconference object