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Early Diagnosis of Mucopolysaccharidoses in Pediatrics

2025-03-27Documento 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.authorDiogo, Luisa
dc.contributor.authorFerreira, A.
dc.contributor.authorMiranda, A.
dc.contributor.authorRibeiro, S.
dc.contributor.authorAntunes, D.
dc.contributor.authorGarcia, P.
dc.contributor.authorRodrigues, E.
dc.contributor.authorCampos, T.
dc.contributor.authorJaneiro, P.
dc.contributor.authorLopes, Altina
dc.contributor.authorPereira, Cristina
dc.contributor.authorNogueira, Célia
dc.contributor.authorSousa, S.
dc.contributor.authorFerreira, S.
dc.contributor.authorAlves, Sandra
dc.contributor.authorLeão Teles, Elisa
dc.contributor.authorVilarinho, Laura
dc.date.accessioned2026-02-04T16:10:35Z
dc.date.available2026-02-04T16:10:35Z
dc.date.issued2025-03-27
dc.description.abstractIntroduction: 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 redflags of MPSs at pediatric age and to provide a 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/10400.18/10807
dc.language.isoeng
dc.peerreviewedyes
dc.relation.hasversionhttps://www.spdm.org.pt/media/6798/v41l_resumo_spdm2025_c.pdf
dc.rights.uriN/A
dc.subjectMucopolysaccharidoses (MPSs)
dc.subjectLysosomal Storage Disorders
dc.subjectPediatrics
dc.subjectDoenças Genéticas
dc.titleEarly Diagnosis of Mucopolysaccharidoses in Pediatricspor
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferenceDate2025-03
oaire.citation.conferencePlaceLisboa, Portugal
oaire.citation.title21st International Symposium da Sociedade Portuguesa de Doenças Metabólicas (SPDM), 27-28 march 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
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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
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