Clinicogenetic characterization and response to disease-modifying therapies in spinal muscular atrophy: real-world experience from a reference center in Southern Brazil
Authors:
- Ana Letícia Amorim de AlbuquerqueAAAna Letícia Amorim de Albuquerque
- Júlia Kersting ChadanowiczJCJúlia Kersting Chadanowicz
- Isabela Possebon BevilacquaIBIsabela Possebon Bevilacqua
- Ana Lucia Portella StaubASAna Lucia Portella Staub
- Pablo Brea WincklerPWPablo Brea Winckler
- Patricia Zambone da SilvaPSPatricia Zambone da Silva
- Simone Chaves FagondesSFSimone Chaves Fagondes
- Renata Salatti FerrariRFRenata Salatti Ferrari
- Claudia Denise de Oliveira TrojahnCTClaudia Denise de Oliveira Trojahn
- Viviane Zechlinski SacharukVSViviane Zechlinski Sacharuk
- Thayne Woycinck KowalskiTKThayne Woycinck Kowalski
- Karina Carvalho DonisKDKarina Carvalho Donis
Open Access
- 16 October 2024
- journal article
- research article
- Published by Elsevier in Jornal de Pediatria
- Vol. 101 (1) , 38-45
Abstract
No abstract availableKeywords
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- Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimensEuropean Journal of Human Genetics, 2011