Publicação
A new method for the identification of mucopolysaccharidosis and oligosaccharidosis
| datacite.subject.fos | Ciências Médicas | |
| dc.contributor.author | da Silva Gaspar, Paulo Jorge Miranda | |
| dc.contributor.author | Neiva, Raquel | |
| dc.contributor.author | Sousa e Silva, Lisbeth Elena | |
| dc.contributor.author | Vilarinho, Laura | |
| dc.date.accessioned | 2026-03-03T16:12:25Z | |
| dc.date.available | 2026-03-03T16:12:25Z | |
| dc.date.issued | 2025-10-30 | |
| dc.description.abstract | Introdução e Objectivos: Lysosomal storage disorders are a group of rare diseases that affect approximately 1 in 4,000 live births in Portugal (Pinto et al , 2004). They are characterized by multisystemic involvement and a wide range of phenotypical presentations, often overlapping with other diseases. As a result, many patients experience a lengthy process of seeking a correct diagnosis, known as the "diagnostic odyssey". To address this challenge, a new tandem mass spectrometry method has been developed for the urinary identification of both oligosaccharides and mucopolysaccharides(MPS). | eng |
| dc.identifier.uri | http://hdl.handle.net/10400.18/11049 | |
| dc.language.iso | por | |
| dc.peerreviewed | yes | |
| dc.rights.uri | N/A | |
| dc.subject | Lysosomal Storage Disorders | |
| dc.subject | Mucopolysaccharidosis | |
| dc.subject | Oligosaccharidosis | |
| dc.subject | Doenças Genéticas | |
| dc.title | A new method for the identification of mucopolysaccharidosis and oligosaccharidosis | eng |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferenceDate | 2025-10 | |
| oaire.citation.conferencePlace | Porto, Portugal | |
| oaire.citation.title | 25.º Congresso Nacional de Pediatria, Sociedade Portuguesa 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 | Vilarinho | |
| person.givenName | Paulo Jorge Miranda | |
| person.givenName | Lisbeth Elena | |
| 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 | 141E-B0DE-7255 | |
| person.identifier.orcid | 0000-0002-4255-0946 | |
| person.identifier.orcid | 0000-0001-7125-8488 | |
| 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 | |
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