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Negative screening of Fabry disease in patients with conduction disorders requiring a pacemaker

dc.contributor.authorLopez-Sainz, Angela
dc.contributor.authorCliment, Vicente
dc.contributor.authorRipoll-Vera, Tomas
dc.contributor.authorEspinosa, Maria Angeles
dc.contributor.authorBarriales Villa, Roberto 
dc.contributor.authorNavarro, Marina
dc.contributor.authorLimeres, Javier
dc.contributor.authorDomingo, Diana
dc.contributor.authorKasper, David C
dc.contributor.authorGarcia-Pavia, Pablo
dc.date.accessioned2022-01-25T12:17:35Z
dc.date.available2022-01-25T12:17:35Z
dc.date.issued2019
dc.identifier.issn1750-1172
dc.identifier.otherhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6615152/pdf/13023_2019_Article_1140.pdfes
dc.identifier.otherhttps://www.ncbi.nlm.nih.gov/pubmed/31286959es
dc.identifier.urihttp://hdl.handle.net/20.500.11940/15925
dc.description.abstractIdentification of Fabry disease (FD) in cardiac patients has been restricted so far to patients with left ventricular hypertrophy. Conduction problems are frequent in FD and could precede other manifestations, offering a possible earlier diagnosis.We studied the prevalence of FD in 188 patients < 70 years with conduction problems requiring pacemaker implantation. Although classical manifestations of FD were not rare, no patient with FD was identified. Screening efforts should not be conducted in this population.en
dc.language.isoenges
dc.rightsAtribución 4.0 Internacional*
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/*
dc.subject.meshMutation*
dc.subject.meshEchocardiography*
dc.subject.meshMiddle Aged*
dc.subject.meshHumans*
dc.subject.meshFabry Disease*
dc.subject.meshAged*
dc.titleNegative screening of Fabry disease in patients with conduction disorders requiring a pacemakeren
dc.typeArtigoes
dc.identifier.doi10.1186/s13023-019-1140-3
dc.identifier.pmid31286959
dc.identifier.sophos32387
dc.issue.number1es
dc.journal.titleOrphanet Journal of Rare Diseaseses
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de A Coruña - Complexo Hospitalario Universitario de A Coruña:: Cardioloxíaes
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::Instituto de Investigación Biomédica da Coruña (INIBIC)es
dc.rights.accessRightsopenAccesses
dc.subject.decsmutación*
dc.subject.decsanciano*
dc.subject.decsecocardiografía*
dc.subject.decsenfermedad de Fabry*
dc.subject.decsmediana edad*
dc.subject.decshumanos*
dc.subject.keywordCHUACes
dc.subject.keywordINIBICes
dc.typefidesArtículo Originales
dc.typesophosArtículo Originales
dc.volume.number14es


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Orphanet J Rare Dis. 2019 Jul 8;14(1):170

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Atribución 4.0 Internacional
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