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Screening for Fabry disease in patients with left ventricular noncompaction

2019Journal article Open Access
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dc.contributor.authorAzevedo, Olga
dc.contributor.authorMarques, Nuno
dc.contributor.authorCraveiro, Nuno
dc.contributor.authorPereira, Ana Rita
dc.contributor.authorAntunes, Hugo
dc.contributor.authorReis, Liliana
dc.contributor.authorGuerreiro, Rui Azevedo
dc.contributor.authorPontes dos Santos, Rui
dc.contributor.authorMiltenberger-Miltenyi, Gabriel
dc.contributor.authorSousa, Nuno
dc.contributor.authorCunha, Damião
dc.date.accessioned2020-03-11T20:39:33Z
dc.date.available2020-03-11T20:39:33Z
dc.date.issued2019
dc.description.abstractIt is unclear whether left ventricular noncompaction (LVNC) is a distinct cardiomyopathy or a morphologic manifestation of different cardiomyopathies. We previously reported a case of LVNC in a Fabry disease (FD) patient, but it remains to be clarified whether LVNC is a cardiac manifestation of FD, a coincidental finding or an overdiagnosis, which has major therapeutic implications. This study aims to determine the prevalence of FD among patients with LVNC.pt_PT
dc.description.abstractNão está esclarecido se a não compactação do ventrículo esquerdo (NCVE) é uma miocardiopatia distinta ou uma manifestação morfológica de várias miocardiopatias. Nós reportamos previamente um caso de NCVE num doente com doença de Fabry (DF), mas permanece por esclarecer se a NCVE é uma manifestação cardíaca de DF, um achado coincidente ou um sobrediagnóstico, o que tem importantes implicações terapêuticas. Este estudo pretende determinar a prevalência de DF em doentes com NCVE.pt_PT
dc.description.sponsorshipFunding Agency Shire Human Genetic Therapies, Inc.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.doihttps://doi.org/10.1016/j.repc.2019.02.014pt_PT
dc.identifier.issn0870-2551
dc.identifier.urihttp://hdl.handle.net/10400.1/13576
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevier Españapt_PT
dc.relation.publisherversionhttps://www.sciencedirect.com/science/article/pii/S0870255119305694?via%3Dihubpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectFabry diseasept_PT
dc.subjectNoncompactionpt_PT
dc.subjectHypertrabeculationpt_PT
dc.subjectCardiomyopathypt_PT
dc.subjectScreeningpt_PT
dc.titleScreening for Fabry disease in patients with left ventricular noncompactionpt_PT
dc.title.alternativeRastreio de doença de Fabry em doentes com não compactação do ventrículo esquerdopt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage716pt_PT
oaire.citation.issue10pt_PT
oaire.citation.startPage709pt_PT
oaire.citation.titleRevista Portuguesa de Cardiologíapt_PT
oaire.citation.volume38pt_PT
person.familyNameMarques
person.givenNameNuno
person.identifier.orcid0000-0003-0275-2807
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication1b66ba1f-d295-4211-b41e-c0f0b622eea0
relation.isAuthorOfPublication.latestForDiscovery1b66ba1f-d295-4211-b41e-c0f0b622eea0

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