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Complex phenotype of hypercholesterolaemia in a family with both ABCG8 and APOB mutations

dc.contributor.authorPadeira, G.
dc.contributor.authorGomes, I.
dc.contributor.authorCorreia, C.
dc.contributor.authorValongo, C.
dc.contributor.authorAlves, A.C.
dc.contributor.authorMedeiros, A.
dc.contributor.authorBourbon, M.
dc.contributor.authorFerreira, A.C.
dc.date.accessioned2017-07-03T13:00:51Z
dc.date.available2017-07-03T13:00:51Z
dc.date.issued2017-03
dc.description.abstractFamilial Hypercholesterolemia (FH) is the most common of all genetic hypercholesterolaemias with defects in LDLR, APOB and PCSK9 accounting for the majority of cases. However, there are other rare disorders like sitosterolaemia that can present the same phenotype. Both can cause premature atherosclerosis but have distinctive dietetic and therapeutic intervention.pt_PT
dc.description.versionN/Apt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/4727
dc.language.isoengpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/pt_PT
dc.subjectFamilial Hypercholesterolemiapt_PT
dc.subjectDoenças Cardio e Cérebro-vascularespt_PT
dc.titleComplex phenotype of hypercholesterolaemia in a family with both ABCG8 and APOB mutationspt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceÉvora, Portugalpt_PT
oaire.citation.title13th International Symposium of SPDM, 16-18 march, 2017pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typeconferenceObjectpt_PT

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