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

Bibliographic Details
Main Author: Padeira, G.
Publication Date: 2017
Other Authors: Gomes, I., Correia, C., Valongo, C., Alves, A.C., Medeiros, A., Bourbon, M., Ferreira, A.C.
Language: eng
Source: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
Download full: http://hdl.handle.net/10400.18/4727
Summary: Familial 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.
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spelling Complex phenotype of hypercholesterolaemia in a family with both ABCG8 and APOB mutationsFamilial HypercholesterolemiaDoenças Cardio e Cérebro-vascularesFamilial 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.Repositório Científico do Instituto Nacional de SaúdePadeira, G.Gomes, I.Correia, C.Valongo, C.Alves, A.C.Medeiros, A.Bourbon, M.Ferreira, A.C.2017-07-03T13:00:51Z2017-032017-03-01T00:00:00Zconference objectinfo:eu-repo/semantics/publishedVersionapplication/pdfhttp://hdl.handle.net/10400.18/4727enginfo:eu-repo/semantics/openAccessreponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiainstacron:RCAAP2025-02-26T14:11:22Zoai:repositorio.insa.pt:10400.18/4727Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireinfo@rcaap.ptopendoar:https://opendoar.ac.uk/repository/71602025-05-28T21:25:59.033713Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiafalse
dc.title.none.fl_str_mv Complex phenotype of hypercholesterolaemia in a family with both ABCG8 and APOB mutations
title Complex phenotype of hypercholesterolaemia in a family with both ABCG8 and APOB mutations
spellingShingle Complex phenotype of hypercholesterolaemia in a family with both ABCG8 and APOB mutations
Padeira, G.
Familial Hypercholesterolemia
Doenças Cardio e Cérebro-vasculares
title_short Complex phenotype of hypercholesterolaemia in a family with both ABCG8 and APOB mutations
title_full Complex phenotype of hypercholesterolaemia in a family with both ABCG8 and APOB mutations
title_fullStr Complex phenotype of hypercholesterolaemia in a family with both ABCG8 and APOB mutations
title_full_unstemmed Complex phenotype of hypercholesterolaemia in a family with both ABCG8 and APOB mutations
title_sort Complex phenotype of hypercholesterolaemia in a family with both ABCG8 and APOB mutations
author Padeira, G.
author_facet Padeira, G.
Gomes, I.
Correia, C.
Valongo, C.
Alves, A.C.
Medeiros, A.
Bourbon, M.
Ferreira, A.C.
author_role author
author2 Gomes, I.
Correia, C.
Valongo, C.
Alves, A.C.
Medeiros, A.
Bourbon, M.
Ferreira, A.C.
author2_role author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório Científico do Instituto Nacional de Saúde
dc.contributor.author.fl_str_mv Padeira, G.
Gomes, I.
Correia, C.
Valongo, C.
Alves, A.C.
Medeiros, A.
Bourbon, M.
Ferreira, A.C.
dc.subject.por.fl_str_mv Familial Hypercholesterolemia
Doenças Cardio e Cérebro-vasculares
topic Familial Hypercholesterolemia
Doenças Cardio e Cérebro-vasculares
description Familial 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.
publishDate 2017
dc.date.none.fl_str_mv 2017-07-03T13:00:51Z
2017-03
2017-03-01T00:00:00Z
dc.type.driver.fl_str_mv conference object
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.18/4727
url http://hdl.handle.net/10400.18/4727
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron:RCAAP
instname_str FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
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institution RCAAP
reponame_str Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
collection Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
repository.name.fl_str_mv Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
repository.mail.fl_str_mv info@rcaap.pt
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