Publication
Mutational Analysis of the Portuguese Cohort with Clinical Diagnosis of Familial Hypercholesterolemia
| dc.contributor.author | Medeiros, A.M. | |
| dc.contributor.author | Alves, A.C. | |
| dc.contributor.author | Bourbon, Mafalda | |
| dc.date.accessioned | 2016-02-17T13:57:45Z | |
| dc.date.available | 2016-02-17T13:57:45Z | |
| dc.date.issued | 2015-03 | |
| dc.description.abstract | Familial hypercholesterolemia (FH) is a common autosomal dominant disorder of lipid metabolism (1:500). FH patients present high levels of plasma cholesterol since birth, and if untreated, develop premature coronary heart disease (pCHD). To fulfil the World Health Organization recommendation (1998 report), the Portuguese FH Study was established in 1999. The aim of the Portuguese FH Study is to promote early identification and characterization of FH patients in order to decrease their cardiovascular risk by the implementation of correct/adequate and early counselling/treatment. | pt_PT |
| dc.description.sponsorship | Acknowledgements: 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/10400.18/3375 | |
| dc.language.iso | eng | pt_PT |
| dc.publisher | Instituto Nacional de Saúde Doutor Ricardo Jorge, IP | pt_PT |
| dc.relation | Clinical and molecular study of familial lipoprotein disorders with increase cardiovascular risk | |
| dc.relation | Novel genes causing Familial Hypercholesterolaemia | |
| dc.subject | Doenças Cardio e Cérebro-vasculares | pt_PT |
| dc.subject | Familial Hypercholesterolemia | pt_PT |
| dc.subject | Portugal | pt_PT |
| dc.title | Mutational Analysis of the Portuguese Cohort with Clinical Diagnosis of Familial Hypercholesterolemia | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.awardTitle | Clinical and molecular study of familial lipoprotein disorders with increase cardiovascular risk | |
| oaire.awardTitle | Novel genes causing Familial Hypercholesterolaemia | |
| oaire.awardURI | info:eu-repo/grantAgreement/FCT/5646-ICCMS/PIC%2FIC%2F83333%2F2007/PT | |
| oaire.awardURI | info:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FSAU-GMG%2F101874%2F2008/PT | |
| oaire.citation.conferencePlace | Glasgow, UK | pt_PT |
| oaire.citation.title | 83rd Congress of the European Atherosclerosis Society (EAS 2015), 22-25 March 2015 | pt_PT |
| oaire.fundingStream | 5646-ICCMS | |
| oaire.fundingStream | 3599-PPCDT | |
| 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 | f7c10f58-f6f9-46f9-9663-b24e59c81818 | |
| relation.isProjectOfPublication | f2cced4d-dbf7-43c7-98a7-a370b6dbb952 | |
| relation.isProjectOfPublication.latestForDiscovery | f7c10f58-f6f9-46f9-9663-b24e59c81818 |
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