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Study of rare familial monogenic dyslipidemias in Portugal

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dc.contributor.authorAlves, Ana Catarina
dc.contributor.authorRaimundo, Ana
dc.contributor.authorGraça, Rafael
dc.contributor.authorSequeira, Sílvia
dc.contributor.authorFerreira, Ana Cristina
dc.contributor.authorMoldovan, Oana
dc.contributor.authorTravessa, André
dc.contributor.authorLobarinhas, Goreti
dc.contributor.authorMansilha, Helena
dc.contributor.authorDuarte, Sequeira
dc.contributor.authorGaspar, Ana
dc.contributor.authorGuerra, António
dc.contributor.authorBourbon, Mafalda
dc.date.accessioned2018-06-04T15:02:43Z
dc.date.available2018-06-04T15:02:43Z
dc.date.issued2018-05
dc.description.abstractDyslipidaemia is a disorder of lipid metabolism, characterized by either an increase or decrease in lipid particles, usually associated with triglycerides (TGs), LDL cholesterol (LDL-C) or HDL cholesterol (HDL-C). Most hyperlipidemia and HDL deficiency confer an increased cardiovascular risk while hypolipidemia, such as abeta or hypobetalipoproteinemia, may present different manifestations ranging from poor weight progression to neurological manifestations. From 2009, the Cardiovascular Investigation Group has been studying rare dyslipidaemias since there were no studies about these disorders in our country. In the context of this study, several index cases and family members with clinical diagnosis of different rare monogenic dyslipidemias or other pathologies in which dyslipidemia is the clinical factor that triggers the need for a genetic diagnosis, have been referred to our lab. The aim of this study is to review all cases with rare dyslipidaemia, either already studied or ongoing in our laboratory.pt_PT
dc.description.sponsorshipWork supported by centregrant (toBioISI, Centre Reference: UID/MULTI/04046/2013), from FCT/MCTES/PIDDAC, Portugalpt_PT
dc.description.versionN/Apt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/5562
dc.language.isoengpt_PT
dc.subjectDyslipidaemiapt_PT
dc.subjectDoenças Cardio e Cérebro-vascularespt_PT
dc.titleStudy of rare familial monogenic dyslipidemias in Portugalpt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/5876/UID%2FMulti%2F04046%2F2013/PT
oaire.citation.conferencePlaceLisbon, Portugalpt_PT
oaire.citation.title86th Annual Congress of the European Atherosclerosis Society (EAS), 5-8 May 2018pt_PT
oaire.fundingStream5876
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsembargoedAccesspt_PT
rcaap.typeconferenceObjectpt_PT
relation.isProjectOfPublicationdc84f768-e6f2-4eea-b294-6c8ebbd1a156
relation.isProjectOfPublication.latestForDiscoverydc84f768-e6f2-4eea-b294-6c8ebbd1a156

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