Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/5565
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dc.contributor.authorGraça, R.-
dc.contributor.authorAbrantes, L.B.-
dc.contributor.authorRossi, N.-
dc.contributor.authorAlves, A.C.-
dc.contributor.authorMedeiros, A.M.-
dc.contributor.authorZimon, M.-
dc.contributor.authorRausch, T.-
dc.contributor.authorBenes, V.-
dc.contributor.authorPepperkok, R.-
dc.contributor.authorBourbon, M.-
dc.date.accessioned2018-06-07T13:48:54Z-
dc.date.available2018-06-07T13:48:54Z-
dc.date.issued2018-05-
dc.identifier.urihttp://hdl.handle.net/10400.18/5565-
dc.description.abstractFamilial hypercholesterolemia (FH) is a common disorder of lipid metabolism. However there are other rare disorders presenting a similar phenotype as Sitosterolemia, where the patient also presents with high LDL values. Sitosterolemia is a rare autosomal recessive disorder, manifested by extremely elevated plant sterols (PS) in plasma and tissue, leading to xanthomas and premature atherosclerotic disease. This disease is caused by mutations in either of two adjacent genes that encode ABC transporters, ABCG5 and ABCG8, responsible for the majority of sterol secretions into bile. Both disorders can cause premature atherosclerosis but have distinctive dietetic and therapeutic intervention. In the Portuguese Familial Hypercholesterolemia Study we have 348 FH mutation negative patients that could have another genetic cause for their hypercholesterolemia. The aim of this study is the clinical molecular report of a case belonging to this group.pt_PT
dc.description.sponsorshipWith thanks to the EAS for support in the form of a Young Investigator Fellowship; Abrantes LB. acknowledges grant BioMolecular/09/2017pt_PT
dc.language.isoengpt_PT
dc.publisherInstituto Nacional de Saúde Doutor Ricardo Jorge, IPpt_PT
dc.rightsembargoedAccesspt_PT
dc.subjectFamilial Hypercholesterolemiapt_PT
dc.subjectPortuguese Familial Hypercholesterolemiapt_PT
dc.subjectDoenças Cardio e Cérebro-vascularespt_PT
dc.titleThe importance to track variants in genes causing recessive disorders within the family: a FH/sitosterolemia clinical casept_PT
dc.typeconferenceObjectpt_PT
dc.description.versionN/Apt_PT
degois.publication.locationLisbon, Portugalpt_PT
degois.publication.title86th Annual Congress of the European Atherosclerosis Society (EAS), 5-8 May 2018pt_PT
Aparece nas colecções:DPSPDNT - Posters/abstracts em congressos internacionais

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