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Find Project: Results of 8 Years

2025-10-30Documento de conferência Acesso restrito
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datacite.subject.fosCiências Médicas
dc.contributor.authorda Silva Gaspar, Paulo Jorge Miranda
dc.contributor.authorNeiva, Raquel
dc.contributor.authorSousa e Silva, Lisbeth Elena
dc.contributor.authorGuimarães, Fábio
dc.contributor.authorDiogo, Luisa
dc.contributor.authorFerreia, Ana Cristina
dc.contributor.authorMiranda, Ana
dc.contributor.authorAntunes, Diana
dc.contributor.authorLouro, Pedro
dc.contributor.authorRibeiro, Sara
dc.contributor.authorGarcia, Paula
dc.contributor.authorRodrigues, Esmeralda
dc.contributor.authorCampos, Teresa
dc.contributor.authorJaneiro, Patrícia
dc.contributor.authorSousa, Sérgio
dc.contributor.authorFerreira, Sara
dc.contributor.authorSilva, Carmen
dc.contributor.authorLopes, Altina
dc.contributor.authorPereira, Cristina
dc.contributor.authorNogueira, Célia
dc.contributor.authorAlves, Sandra
dc.contributor.authorLeão Teles, Elisa
dc.contributor.authorVilarinho, Laura
dc.date.accessioned2026-03-03T16:08:20Z
dc.date.available2026-03-03T16:08:20Z
dc.date.issued2025-10-30
dc.description.abstractIntrodução e Objectivos: Mucopolysaccharidoses (MPSs) are a group of Lysosomal Storage Disorders with multisystem involvement, presenting different degrees of severity and evolution. At early disease stages and late onset forms, diagnosis can be postponed for years or even missed. The FIND PROJECT was designed to claim awareness to the red flags of MPSs at pediatric age and to provide an useful tool for physicians to diagnose these pathologies, since most of them are amenable to enzyme replacement therapy.eng
dc.identifier.urihttp://hdl.handle.net/10400.18/11048
dc.language.isopor
dc.peerreviewedyes
dc.rights.uriN/A
dc.subjectMucopolysaccharidoses
dc.subjectLysosomal Storage Disorders
dc.subjectMPS
dc.subjectHurler
dc.subjectHunter
dc.subjectSanfilippo
dc.subjectMorquio
dc.subjectMaroteaux-Lamy
dc.subjectDoenças Lisossomais de Sobrecarga
dc.subjectDoenças Geneticas
dc.titleFind Project: Results of 8 Yearseng
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferenceDate2025-10
oaire.citation.conferencePlacePorto, Portugal
oaire.citation.title25.º Congresso Nacional de Pediatria, Sociedade Portuguesa de Pediatria, 29-31 outubro 2025
oaire.versionhttp://purl.org/coar/version/c_be7fb7dd8ff6fe43
person.familyNameda Silva Gaspar
person.familyNameSousa e Silva
person.familyNameDiogo
person.familyNameAlves
person.familyNameLeão Teles
person.familyNameVilarinho
person.givenNamePaulo Jorge Miranda
person.givenNameLisbeth Elena
person.givenNameLuisa
person.givenNameSandra
person.givenNameElisa
person.givenNameLaura
person.identifier1370352
person.identifierS-8443-2018
person.identifier.ciencia-id7213-8E3E-DC0D
person.identifier.ciencia-id211F-BC45-C4BE
person.identifier.ciencia-idED17-CB2D-8337
person.identifier.ciencia-idB618-7244-EEE2
person.identifier.ciencia-id141E-B0DE-7255
person.identifier.orcid0000-0002-4255-0946
person.identifier.orcid0000-0001-7125-8488
person.identifier.orcid0000-0003-3821-6643
person.identifier.orcid0000-0002-8881-9197
person.identifier.orcid0000-0002-3011-0249
person.identifier.orcid0000-0001-6186-779X
person.identifier.ridK-4425-2013
person.identifier.scopus-author-id57201454370
person.identifier.scopus-author-id57195459385
person.identifier.scopus-author-id6602440261
person.identifier.scopus-author-id7102194200
relation.isAuthorOfPublication00161b65-b2af-4d9d-8a3d-06e184813012
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relation.isAuthorOfPublication.latestForDiscovery00161b65-b2af-4d9d-8a3d-06e184813012

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