Publicação
Advances in the diagnosis and understanding of mitochondrial cytopathies: a retrospective study of genetic and clinical variability
| dc.contributor.author | Freitas, Keylene | |
| dc.contributor.author | Pinto, P. Lipari | |
| dc.contributor.author | Dias, P. | |
| dc.contributor.author | Florindo, C. | |
| dc.contributor.author | Gomes, D. | |
| dc.contributor.author | Oliveira, A. | |
| dc.contributor.author | Jotta, R. | |
| dc.contributor.author | Grazina, M. | |
| dc.contributor.author | Nogueira, Célia | |
| dc.contributor.author | Vilarinho, Laura | |
| dc.contributor.author | Gaspar, Ana | |
| dc.contributor.author | Janeiro, Patrícia | |
| dc.date.accessioned | 2026-03-03T15:06:34Z | |
| dc.date.available | 2026-03-03T15:06:34Z | |
| dc.date.issued | 2025-03 | |
| dc.description.abstract | Introduction: Mitochondrial cytopathies (MCs) are a phenotypically heterogeneous group of inborn metabolic disorders (IMD) caused by mitochondrial respiratory chain dysfunction. Recent advances in molecular diagnostics have improved our understanding of these complex disorders. However, the extensive genetic and phenotypic heterogeneity of MCs remains only partially characterized and the correlations between specific genetic variants and clinical manifestations are just beginning to be unraveled. We hereby describe the phenotypic and genotypic variability of a cohort of 49 patients with MC. | eng |
| dc.identifier.uri | http://hdl.handle.net/10400.18/11041 | |
| dc.language.iso | eng | |
| dc.peerreviewed | n/a | |
| dc.relation.hasversion | https://www.spdm.org.pt/media/6798/v41l_resumo_spdm2025_c.pdf | |
| dc.rights.uri | N/A | |
| dc.subject | Mitochondrial Cytopathies | |
| dc.subject | Respiratory Chain | |
| dc.subject | Inborn Metabolic Disorders | |
| dc.subject | Doenças Genéticas | |
| dc.title | Advances in the diagnosis and understanding of mitochondrial cytopathies: a retrospective study of genetic and clinical variability | eng |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferenceDate | 2025-03 | |
| oaire.citation.conferencePlace | Lisboa, Portugal | |
| oaire.citation.startPage | 33 | |
| 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_be7fb7dd8ff6fe43 |