Publication
The FH phenotype: monogenic familial hypercholesterolaemia, polygenic dyslipidaemia and other causes
| dc.contributor.author | Mariano, C. | |
| dc.contributor.author | Antunes, M. | |
| dc.contributor.author | Medeiros, A.M. | |
| dc.contributor.author | Alves, A.C. | |
| dc.contributor.author | Futema, M. | |
| dc.contributor.author | Humphries, S.E. | |
| dc.contributor.author | Bourbon, Mafalda | |
| dc.date.accessioned | 2018-03-05T16:41:37Z | |
| dc.date.available | 2018-03-05T16:41:37Z | |
| dc.date.issued | 2017-10 | |
| dc.description.abstract | Familial hypercholesterolaemia (FH) is a monogenic autosomal condition where patients present very high LDL-C values and an increase cardiovascular risk. FH is caused by mutations in 3 genes: LDLR, APOB and PCSK9. However in only about 40%-50% of the cases an FH causing mutation is found. The FH phenotype has been associated recently to other monogenic disorders as lysosomal acid lipase deficiency or can have a polygenic origin. The aim of this work was to characterize the origin of FH phenotype in a cohort of patients with a clinical diagnosis of FH. | pt_PT |
| dc.description.sponsorship | Cibelle Mariano was funded by SFRH/BD/52494/2014. | pt_PT |
| dc.description.version | N/A | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/5171 | |
| dc.language.iso | eng | pt_PT |
| dc.publisher | Instituto Nacional de Saúde Doutor Ricardo Jorge, IP | pt_PT |
| dc.subject | Familial Hypercholesterolaemia | pt_PT |
| dc.subject | Cardiovascular Risk | pt_PT |
| dc.subject | Doenças Cardio e Cérebro-vasculares | pt_PT |
| dc.title | The FH phenotype: monogenic familial hypercholesterolaemia, polygenic dyslipidaemia and other causes | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Buenos Aires, Argentina | pt_PT |
| oaire.citation.title | V Simposio de la Red Iberoamericana de Hipercolesterolemia Familiar, 18-19 outubro 2017 | pt_PT |
| rcaap.rights | embargoedAccess | pt_PT |
| rcaap.type | conferenceObject | pt_PT |