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Genomics of familial hypercholesterolaemia

2019-04Journal article Restricted access
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dc.contributor.authorAlves, Ana C.
dc.contributor.authorChora, Joana R.
dc.contributor.authorBourbon, Mafalda
dc.date.accessioned2020-04-25T10:12:08Z
dc.date.available2020-04-25T10:12:08Z
dc.date.issued2019-04
dc.descriptionEditorialpt_PT
dc.description.abstractFamilial hypercholesterolaemia is an autosomal dominant disorder of lipid metabolism characterized by elevated levels of LDL-C and increased cardiovascular risk. Although the disorder can be diagnosed based on established clinical criteria, only the genetic diagnosis confirms the clinical suspicion. There are three main genes associated with familial hypercholesterolaemia: LDL receptor (LDLR), responsible for more than 90% of the cases, apolipoprotein B (APOB), responsible for 5–10% of the cases and Proprotein Convertase Subtilisin/ Kexin Type 9 (PCSK9), responsible for up to 3% of the cases. However, reporting of situations where there is an overlap of the familial hypercholesterolaemia phenotype and other conditions is now growing. (...)pt_PT
dc.description.sponsorshipJ.R.C. is supported by a PhD fellowship from Science and Technology Foundation (SFRH/BD/108503/2015).pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationCurr Opin Lipidol. 2019 Apr;30(2):148-150. doi: 10.1097/MOL.0000000000000584.pt_PT
dc.identifier.doi10.1097/MOL.0000000000000584pt_PT
dc.identifier.issn0957-9672
dc.identifier.urihttp://hdl.handle.net/10400.18/6514
dc.language.isoengpt_PT
dc.peerreviewednopt_PT
dc.publisherWolters Kluwer Healthpt_PT
dc.relation.publisherversionhttps://insights.ovid.com/pubmed?pmid=30844855pt_PT
dc.subjectEster Storage Diseasept_PT
dc.subjectApo-B mutationspt_PT
dc.subjectIdentificationpt_PT
dc.subjectDiagnosispt_PT
dc.subjectVariantspt_PT
dc.subjectSTAP1pt_PT
dc.subjectFamilial hypercholesterolaemiapt_PT
dc.subjectDoenças Cardio e Cérebro-vascularespt_PT
dc.subjectHpercolesterolemia Familiarpt_PT
dc.titleGenomics of familial hypercholesterolaemiapt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage150pt_PT
oaire.citation.issue2pt_PT
oaire.citation.startPage148pt_PT
oaire.citation.titleCurrent Opinion in Lipidologypt_PT
oaire.citation.volume30pt_PT
rcaap.embargofctDe acordo com política editorial da revista.pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT

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