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Familial Chylomicronemia Syndrome: clinical and molecular characterization of individuals WITH clinical diagnosis in Portugal

2020-10Conference object Restricted access
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dc.contributor.authorAlves, Ana Catarina
dc.contributor.authorAbrantes, Leonor
dc.contributor.authorSequeira, Sílvia
dc.contributor.authorMoldovan, Oana
dc.contributor.authorNunes, Catarina
dc.contributor.authorAntunes, Henedina
dc.contributor.authorMartins, Esmeralda
dc.contributor.authorGonçalves, Rute
dc.contributor.authorDuarte, Sequeira
dc.contributor.authorGuerra, António
dc.contributor.authorGaspar, Ana
dc.contributor.authorSalgado, Miguel
dc.contributor.authorAzevedo, Aida
dc.contributor.authorRato, Quitéria
dc.contributor.authorPalma, Isabel
dc.contributor.authorBourbon, Mafalda
dc.date.accessioned2021-04-30T15:02:54Z
dc.date.available2021-04-30T15:02:54Z
dc.date.issued2020-10
dc.description.abstractAim: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder of lipoprotein metabolism. It is characterized by marked elevation of triglyceride and chylomicron levels, lipaemic plasma, recurrent pancreatitis, eruptive xanthoma, hepatosplenomegaly, and liapemia retinalis. All genes associated with FCS (LPL, APOC2, APOA5, LMF1 and GPHBP1) have an effect on the activity of lipoprotein lipase (LPL). The aim of this study is to present all cases with FCS clinical diagnosis, studied in our laboratory.pt_PT
dc.description.versionN/Apt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/7715
dc.language.isoengpt_PT
dc.publisherInstituto Nacional de Saúde Doutor Ricardo Jorge, IPpt_PT
dc.subjectHypertriglyceridemiapt_PT
dc.subjectFamilial Chylomicronemiapt_PT
dc.subjectFamilial Chylomicronemia Syndromept_PT
dc.subjectClnical Characterizationpt_PT
dc.subjectMolecular Characterizationpt_PT
dc.subjectPortuguese Populationpt_PT
dc.subjectPortugalpt_PT
dc.subjectDoenças Cardio e Cérebro-vascularespt_PT
dc.titleFamilial Chylomicronemia Syndrome: clinical and molecular characterization of individuals WITH clinical diagnosis in Portugalpt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlace(online)pt_PT
oaire.citation.title88th European Atherosclerosis Society Congress, 4-7 October 2020pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typeconferenceObjectpt_PT

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