Clinicogenetic characterization and response to disease-modifying therapies in spinal muscular atrophy: real-world experience from a reference center in Southern Brazil
This real-world study reinforces the effectiveness of disease-modifying therapies for SMA in Brazil within the context of low- and middle-income countries, which is greater the earlier and the better the patient's functional status.
Authors
- Michele Michelin Becker (ORCID: https://orcid.org/0009-0008-1232-5896)
- Ana Letícia Amorim de Albuquerque
- Ana Lúcia Portella Staub
- Pablo Brea Winckler (ORCID: https://orcid.org/0000-0003-1952-9222)
- Patrícia Zambone da Silva (ORCID: https://orcid.org/0000-0002-1923-8997)
- Isabela Possebon Bevilacqua
- Thayne Woycinck Kowalski (ORCID: https://orcid.org/0000-0001-5799-2272)
- Simone Chaves Fagondes (ORCID: https://orcid.org/0000-0001-5173-2488)
- Karina Carvalho Donis (ORCID: https://orcid.org/0000-0003-3028-3163)
- Jonas Alex Morales Saute (ORCID: https://orcid.org/0000-0003-1141-6573)
- Júlia Kersting Chadanowicz
- Renata Salatti Ferrari (ORCID: https://orcid.org/0000-0001-8992-2607)
- Viviane Zechlinski Sacharuk
- Claudia Denise de Oliveira Trojahn
Institutions
- Universidade Federal do Rio Grande do Sul (BR)
- Hospital de Clínicas de Porto Alegre (BR)
- Hospital de Clínicas (UY)
Publication Details
- Journal
- Jornal de Pediatria
- Published
- 2024-10-16
- DOI
- https://doi.org/10.1016/j.jped.2024.07.011
- Citations
- 3
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 1.31
Funders
- Coordenação de Aperfeiçoamento de Pessoal de Nível Superior
- Conselho Nacional de Desenvolvimento Científico e Tecnológico
- Hospital de Clínicas de Porto Alegre
- Fundação Instituto de Pesquisas Econômicas