Identifcation and characterization of the cause of lipid metabolism disruption in patients with severe and unexplained familial dyslipidaemia

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dc.contributor.author	Rossi, Niccolò
dc.contributor.author	Bourbon, Mafalda
dc.date.accessioned	2016-02-12T15:20:21Z
dc.date.available	2016-02-12T15:20:21Z
dc.date.issued	2015-01-16
dc.description.abstract	Objectives: 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.	pt_PT
dc.description.sponsorship	Niccolò Rossi was founded by SFRH/BD/106086/2015	pt_PT
dc.identifier.uri	http://hdl.handle.net/10400.18/3281
dc.language.iso	eng	pt_PT
dc.publisher	Instituto Nacional de Saúde Doutor Ricardo Jorge, IP	pt_PT
dc.subject	Doenças Cardio e Cérebro-vasculares	pt_PT
dc.subject	Lipid Metabolism Disruption	pt_PT
dc.subject	Familial Hypercholesterolemia	pt_PT
dc.title	Identifcation and characterization of the cause of lipid metabolism disruption in patients with severe and unexplained familial dyslipidaemia	pt_PT
dc.type	conference object
dspace.entity.type	Publication
oaire.citation.conferencePlace	Lisboa, Portugal	pt_PT
oaire.citation.title	1st BioSys PhD Day, Salão Nobre – Rectory of the University of Lisboa, 16th January 2015	pt_PT
rcaap.rights	embargoedAccess	pt_PT
rcaap.type	conferenceObject	pt_PT

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