Publication
Improving familial dyslipidaemia diagnosis
| dc.contributor.author | Graça, R. | |
| dc.contributor.author | Rossi, N. | |
| dc.contributor.author | Alves, A.C. | |
| dc.contributor.author | Medeiros, A. | |
| dc.contributor.author | Zimon, M. | |
| dc.contributor.author | Raush, T. | |
| dc.contributor.author | Benes, V. | |
| dc.contributor.author | Pepperkok, R. | |
| dc.contributor.author | Bourbon, M. | |
| dc.date.accessioned | 2019-04-01T15:22:54Z | |
| dc.date.available | 2019-04-01T15:22:54Z | |
| dc.date.issued | 2018-08 | |
| dc.description.abstract | Aim: Familial Hypercholesterolemia (FH) is characterized clinically by high LDL plasma concentrations from birth leading to premature atherosclerosis and CHD. Only 40% of the patients enrolled in the Portuguese FH Study carry a putative pathogenic mutation. The remaining individuals may have polygenic forms of dyslipidaemia or mutations in genes not yet associated with FH. | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | Atherosclerosis. 2018 Aug;275:e99. doi: 10.1016/j.atherosclerosis.2018.06.270 | pt_PT |
| dc.identifier.doi | 10.1016/j.atherosclerosis.2018.06.270 | pt_PT |
| dc.identifier.issn | 0021-9150 | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/6352 | |
| dc.language.iso | eng | pt_PT |
| dc.publisher | Elsevier/ European Atherosclerosis Society | pt_PT |
| dc.relation.publisherversion | https://www.sciencedirect.com/science/article/pii/S0021915018305823?via%3Dihub | pt_PT |
| dc.subject | Familial Hypercholesterolemia | pt_PT |
| dc.subject | Doenças Cardio e Cérebro-vasculares | pt_PT |
| dc.title | Improving familial dyslipidaemia diagnosis | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Lisboa, Portugal | pt_PT |
| oaire.citation.startPage | e99 | pt_PT |
| oaire.citation.title | 86th Congress of the European-Atherosclerosis-Society (EAS), 5-8 May 2018 | pt_PT |
| oaire.citation.volume | 275 | pt_PT |
| rcaap.rights | embargoedAccess | pt_PT |
| rcaap.type | conferenceObject | pt_PT |
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