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Clinicogenetic characterization and response to disease-modifying therapies in spinal muscular atrophy: real-world experience from a reference center in Southern Brazil.
de Albuquerque ALA, Chadanowicz JK, Bevilacqua IP, Staub ALP, Winckler PB, da Silva PZ, Fagondes SC, Ferrari RS, Trojahn CDO, Sacharuk VZ, Kowalski TW, Donis KC, Becker MM, Saute JAM. de Albuquerque ALA, et al. Among authors: bevilacqua ip. J Pediatr (Rio J). 2025 Jan-Feb;101(1):38-45. doi: 10.1016/j.jped.2024.07.011. Epub 2024 Oct 16. J Pediatr (Rio J). 2025. PMID: 39426797 Free article.
Estimated costs for Duchenne muscular dystrophy care in Brazil.
Schneider NB, Roos EC, Staub ALP, Bevilacqua IP, de Almeida AC, de Camargo Martins T, Ramos NB, Loze P, Saute JAM, Etges APBDS, Polanczyk CA. Schneider NB, et al. Among authors: bevilacqua ip. Orphanet J Rare Dis. 2023 Jun 22;18(1):159. doi: 10.1186/s13023-023-02767-6. Orphanet J Rare Dis. 2023. PMID: 37349725 Free PMC article.