Publication
Genetic Screening of Familial Hypercholesterolemia in Portugal
| dc.contributor.author | Medeiros, A.M. | |
| dc.contributor.author | Alves, A.C. | |
| dc.contributor.author | Bourbon, Mafalda | |
| dc.date.accessioned | 2016-02-17T14:00:36Z | |
| dc.date.available | 2016-02-17T14:00:36Z | |
| dc.date.issued | 2015-05 | |
| dc.description.abstract | Purpose: Familial hypercholesterolemia (FH) is a common autosomal dominant disorder of lipid metabolism (1:500 frequency), caused by mutations in LDLR, APOB, PCSK9 genes. FH patients have high levels of plasma cholesterol since birth, accelerated atherosclerosis and, without treatment, increased risk of premature coronary heart disease (pCHD). WHO recommends universal screening of FH, since there is a definite/genetic diagnosis and pharmacological treatment that reduces patients’ cardiovascular risk. Portugal doesn’t have a national screening programme for FH but, in 1999, it was established the Portuguese FH Study (PFHS) that aims to determine prevalence/distribution of FH in Portugal in order to promote the early identification and characterization of FH patients and improve their prognosis. | pt_PT |
| dc.description.sponsorship | AM Medeiros was funded by BRJ-DPS/2012; AC Alves was funded by by FCT SFRH/BD/27990/2006 and FCT_PTDC/SAU-GMG/101874/2008 Projects grants: Portuguese Cardiology Society [D13123], Science and Technology Foundation [project grant PIC/IC/83333/2007] | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/3376 | |
| dc.language.iso | eng | pt_PT |
| dc.publisher | Instituto Nacional de Saúde Doutor Ricardo Jorge, IP | pt_PT |
| dc.relation | Novel genes causing Familial Hypercholesterolaemia | |
| dc.relation | Clinical and molecular study of familial lipoprotein disorders with increase cardiovascular risk | |
| dc.subject | Doenças Cardio e Cérebro-vasculares | pt_PT |
| dc.subject | Familial Hypercholesterolemia | pt_PT |
| dc.title | Genetic Screening of Familial Hypercholesterolemia in Portugal | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.awardTitle | Novel genes causing Familial Hypercholesterolaemia | |
| oaire.awardTitle | Clinical and molecular study of familial lipoprotein disorders with increase cardiovascular risk | |
| oaire.awardURI | info:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FSAU-GMG%2F101874%2F2008/PT | |
| oaire.awardURI | info:eu-repo/grantAgreement/FCT/5646-ICCMS/PIC%2FIC%2F83333%2F2007/PT | |
| oaire.citation.conferencePlace | Lisbon, Portugal | pt_PT |
| oaire.citation.title | EuroPRevent 2015, European Association for Cardiovascular, 14-16 May 2015 | pt_PT |
| oaire.fundingStream | 3599-PPCDT | |
| oaire.fundingStream | 5646-ICCMS | |
| project.funder.identifier | http://doi.org/10.13039/501100001871 | |
| project.funder.identifier | http://doi.org/10.13039/501100001871 | |
| project.funder.name | Fundação para a Ciência e a Tecnologia | |
| project.funder.name | Fundação para a Ciência e a Tecnologia | |
| rcaap.rights | embargoedAccess | pt_PT |
| rcaap.type | conferenceObject | pt_PT |
| relation.isProjectOfPublication | f2cced4d-dbf7-43c7-98a7-a370b6dbb952 | |
| relation.isProjectOfPublication | f7c10f58-f6f9-46f9-9663-b24e59c81818 | |
| relation.isProjectOfPublication.latestForDiscovery | f7c10f58-f6f9-46f9-9663-b24e59c81818 |
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