Publicação
Differential Diagnosis of Alpha-Mannosidosis in MPSs
| dc.contributor.author | da Silva Gaspar, Paulo Jorge Miranda | |
| dc.contributor.author | Gonçalves, Diana | |
| dc.contributor.author | Neiva, Raquel | |
| dc.contributor.author | Sousa e Silva, Lisbeth Elena | |
| dc.contributor.author | Vilarinho, Laura | |
| dc.date.accessioned | 2026-02-04T16:01:40Z | |
| dc.date.available | 2026-02-04T16:01:40Z | |
| dc.date.issued | 2025-03-27 | |
| dc.description.abstract | Introduction: Mucopolysaccharidosis (MPSs) and oligosaccharidosis, two subgroups of lysosomal storage disorders (LSDs), face diagnostic challenges due to their wide spectrum of clinical presentations and overlapping symptoms. One of the oligosaccharidose is α-mannosidosis, an extremely rare and often undiagnosed disorder. It is characterized by a deficiency in the enzymatic activity of α-mannosidase, which is responsible for cleaving mannose from N-linked oligosaccharides. This study aimed to investigate the activity of α-mannosidase in dried blood spot (DBS) samples that had undergone screening for MPSs. | eng |
| dc.identifier.uri | http://hdl.handle.net/10400.18/10805 | |
| dc.language.iso | eng | |
| dc.peerreviewed | yes | |
| dc.relation.hasversion | https://www.spdm.org.pt/media/6798/v41l_resumo_spdm2025_c.pdf | |
| dc.rights.uri | N/A | |
| dc.subject | Mucopolysaccharidosis (MPSs) | |
| dc.subject | Lysosomal Storage Disorders | |
| dc.subject | Oligosaccharidosis | |
| dc.subject | α-mannosidase | |
| dc.subject | Doenças Genéticas | |
| dc.title | Differential Diagnosis of Alpha-Mannosidosis in MPSs | eng |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferenceDate | 2025-03 | |
| oaire.citation.conferencePlace | Lisboa, Portugal | |
| oaire.citation.title | 21st International Symposium da Sociedade Portuguesa de Doenças Metabólicas (SPDM) “Todas estas sessões são muito úteis”, 27-28 march 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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| relation.isAuthorOfPublication.latestForDiscovery | 00161b65-b2af-4d9d-8a3d-06e184813012 |