Publication
Portuguese experience on cascade screening of index patients with FH
| dc.contributor.author | Medeiros, A.M. | |
| dc.contributor.author | Alves, A.C. | |
| dc.contributor.author | Leitão, F. | |
| dc.contributor.author | Bourbon, M. | |
| dc.date.accessioned | 2012-07-10T12:52:07Z | |
| dc.date.available | 2012-07-10T12:52:07Z | |
| dc.date.issued | 2012-05 | |
| dc.description.abstract | Familial hypercholesterolaemia (FH) is an inherited disorder of cholesterol metabolism caused by mutations in LDLR, APOB and PCSK9 genes. FH has a estimated frequency of 1:500 in most European countries. Based on this frequency Portugal should have about 20000 cases of FH, however in our country this disorder is under-diagnosed. | por |
| dc.identifier.uri | http://hdl.handle.net/10400.18/902 | |
| dc.language.iso | eng | por |
| dc.publisher | Instituto Nacional de Saúde Doutor Ricardo Jorge, IP | por |
| dc.subject | Doenças Cardio e Cérebro-vasculares | por |
| dc.title | Portuguese experience on cascade screening of index patients with FH | por |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Milan, Italy | por |
| oaire.citation.title | 80th European Atherosclerosis Society Congress-EAS, 25-28 May 2012 | por |
| rcaap.rights | openAccess | por |
| rcaap.type | conferenceObject | por |
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