Publicação
A Multiplex Biomarker panel: A powerful tool for LSDs Diagnosis
| datacite.subject.fos | Ciências Médicas | |
| dc.contributor.author | Neiva, Raquel | |
| dc.contributor.author | da Silva Gaspar, Paulo Jorge Miranda | |
| dc.contributor.author | Sousa e Silva, Lisbeth Elena | |
| dc.contributor.author | Gonçalves, Isabel | |
| dc.contributor.author | Ferreira, Sara | |
| dc.contributor.author | Diogo, Luisa | |
| dc.contributor.author | Vilarinho, Laura | |
| dc.date.accessioned | 2026-02-11T10:34:02Z | |
| dc.date.available | 2026-02-11T10:34:02Z | |
| dc.date.issued | 2025-10-30 | |
| dc.description.abstract | Introdução / Descrição do Caso: Lysosomal Storage Disorders (DLSs) are a set of rare, chronic and multisystemic pathologies with a variable mode of presentation and severity. Acid sphingomyelinase deficiency (ASMD), historically known as Niemann–Pick disease (NPD) types A, A/B, and B, is a rare, progressive, potentially fatal lysosomal storage disease caused by pathogenic variants in SMPD1 gene. The disease manifestations frequently involve hepatosplenomegaly with progressive organ dysfunction, interstitial lung disease, and bleeding. The cellular damage caused by sphingomyelin accumulation can be irreversible and can lead to life-threatening complications with reduced life expectancy. ASMD can be underestimate and the diagnostic odyssey arise from an overlap in symptomology with other diseases, including primary hepatic disease, Gaucher disease, NPC, and lysosomal acid lipase deficiency. | eng |
| dc.identifier.uri | http://hdl.handle.net/10400.18/10894 | |
| dc.language.iso | por | |
| dc.peerreviewed | yes | |
| dc.rights.uri | N/A | |
| dc.subject | Doenças Lisossomais de Sobrecarga | |
| dc.subject | Niemann-PicK | |
| dc.subject | Biomarcadores | |
| dc.subject | SMPD1 | |
| dc.subject | LisoEsfingomielina | |
| dc.subject | Doenças Genéticas | |
| dc.title | A Multiplex Biomarker panel: A powerful tool for LSDs Diagnosis | eng |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferenceDate | 2025-10 | |
| oaire.citation.conferencePlace | Porto, Portugal | |
| oaire.citation.title | 25º Congresso Nacional de Pediatria, 29-31 Outubro 2025 | |
| oaire.version | http://purl.org/coar/version/c_be7fb7dd8ff6fe43 | |
| person.familyName | da Silva Gaspar | |
| person.familyName | Sousa e Silva | |
| person.familyName | Diogo | |
| person.familyName | Vilarinho | |
| person.givenName | Paulo Jorge Miranda | |
| person.givenName | Lisbeth Elena | |
| person.givenName | Luisa | |
| person.givenName | Laura | |
| person.identifier | 1370352 | |
| person.identifier | S-8443-2018 | |
| person.identifier.ciencia-id | 7213-8E3E-DC0D | |
| person.identifier.ciencia-id | 211F-BC45-C4BE | |
| person.identifier.ciencia-id | ED17-CB2D-8337 | |
| person.identifier.ciencia-id | 141E-B0DE-7255 | |
| person.identifier.orcid | 0000-0002-4255-0946 | |
| person.identifier.orcid | 0000-0001-7125-8488 | |
| person.identifier.orcid | 0000-0003-3821-6643 | |
| person.identifier.orcid | 0000-0001-6186-779X | |
| person.identifier.rid | K-4425-2013 | |
| person.identifier.scopus-author-id | 57201454370 | |
| person.identifier.scopus-author-id | 57195459385 | |
| person.identifier.scopus-author-id | 6602440261 | |
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