| dc.contributor.author | Alves, Ana Catarina | |
| dc.date.accessioned | 2016-09-30T09:43:12Z | |
| dc.date.available | 2016-09-30T09:43:12Z | |
| dc.date.issued | 2016-01 | |
| dc.description.abstract | The familial dyslipidaemia are underdiagnosed and so it is necessary an effort from all health professional to identify these high risk patients in order to provide the best counseling and treatment to reduce their elevated cardiovascular(hepatic/neurologic) risk. A novel diagnosis method (by NGS) is being implemented in order to study a larger panel of genes for dyslipidaemia to improve patient diagnosis | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/4004 | |
| 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.subject | Doenças Cardio e Cérebro-vasculares | pt_PT |
| dc.subject | Dislipidémias Familiares | pt_PT |
| dc.subject | Diagnóstico Molecular | pt_PT |
| dc.subject | Familial Dyslipidaemia | pt_PT |
| dc.title | Diagnóstico molecular de Dislipidémias Familiares | pt_PT |
| dc.type | lecture | |
| dspace.entity.type | Publication | |
| oaire.awardTitle | Novel genes causing Familial Hypercholesterolaemia | |
| oaire.awardURI | info:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FSAU-GMG%2F101874%2F2008/PT | |
| oaire.citation.conferencePlace | Lisboa, Portugal | pt_PT |
| oaire.citation.title | Aula no âmbito da pos-graduação em Patologia Molecular, Cooperativa de Ensino Superior, Egas Moniz, 22 Janeiro 2016 | pt_PT |
| oaire.fundingStream | 3599-PPCDT | |
| project.funder.identifier | http://doi.org/10.13039/501100001871 | |
| project.funder.name | Fundação para a Ciência e a Tecnologia | |
| rcaap.rights | embargoedAccess | pt_PT |
| rcaap.type | lecture | pt_PT |
| relation.isProjectOfPublication | f2cced4d-dbf7-43c7-98a7-a370b6dbb952 | |
| relation.isProjectOfPublication.latestForDiscovery | f2cced4d-dbf7-43c7-98a7-a370b6dbb952 |
