Publicação
Olipudase alfa enzyme replacement therapy. One-year outcomes in an adult patient with acid sphingomyelinase deficiency type B
| datacite.subject.fos | Ciências Médicas | |
| dc.contributor.author | Cardoso, M. | |
| dc.contributor.author | Chaves, P.C. | |
| dc.contributor.author | Pintalhão, M. | |
| dc.contributor.author | da Silva Gaspar, Paulo Jorge Miranda | |
| dc.contributor.author | Castro, R. | |
| dc.contributor.author | Bastos, J. | |
| dc.contributor.author | Silva, A. | |
| dc.contributor.author | Campos, T. | |
| dc.contributor.author | Macedo, Fatima | |
| dc.contributor.author | Rodrigues, E. | |
| dc.contributor.author | Leão Teles, Elisa | |
| dc.date.accessioned | 2026-02-09T12:44:22Z | |
| dc.date.available | 2026-02-09T12:44:22Z | |
| dc.date.issued | 2025-03-27 | |
| dc.description.abstract | Introduction: Acid Sphingomyelinase Deficiency (ASMD) is a rare autosomal recessive lysosomal storage disorder caused by variants in the SMPD1 gene, leading to a deficiency in the activity of sphingomyelinase (ASM) that catabolizes sphingomyelin (SPM). ASMD Type B is a late-onset, severe disease characterized by progressive hepatosplenomegaly, gradual deterioration of liver and pulmonary function, osteopenia and an atherogenic lipid profile. Olipudase alfa is a recombinant human ASM enzyme replacement therapy indicated for the treatment of non-C-NS manifestations of ASMD. | eng |
| dc.identifier.uri | http://hdl.handle.net/10400.18/10851 | |
| 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 | http://creativecommons.org/licenses/by-nc-nd/4.0/ | |
| dc.subject | Acid Sphingomyelinase Deficiency (ASMD) | |
| dc.subject | Lysosomal Storage Disorder | |
| dc.subject | Olipudase Alfa | |
| dc.subject | Doenças Genéticas | |
| dc.title | Olipudase alfa enzyme replacement therapy. One-year outcomes in an adult patient with acid sphingomyelinase deficiency type B | 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), 27-28 march 2025 | |
| oaire.version | http://purl.org/coar/version/c_b1a7d7d4d402bcce | |
| person.familyName | da Silva Gaspar | |
| person.familyName | Macedo | |
| person.familyName | Leão Teles | |
| person.givenName | Paulo Jorge Miranda | |
| person.givenName | Fatima | |
| person.givenName | Elisa | |
| person.identifier | 1370352 | |
| person.identifier.ciencia-id | 7213-8E3E-DC0D | |
| person.identifier.ciencia-id | 2615-7465-D6E0 | |
| person.identifier.orcid | 0000-0002-4255-0946 | |
| person.identifier.orcid | 0000-0002-2252-6105 | |
| person.identifier.orcid | 0000-0002-3011-0249 | |
| person.identifier.rid | K-4425-2013 | |
| person.identifier.rid | L-4623-2013 | |
| person.identifier.scopus-author-id | 57201454370 | |
| person.identifier.scopus-author-id | 7101989846 | |
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| relation.isAuthorOfPublication.latestForDiscovery | 00161b65-b2af-4d9d-8a3d-06e184813012 |