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 Albuquerque, Júlia Kersting Chadanowicz, Isabela Possebon Bevilacqua, Ana Lucia Portella Staub, Pablo Brea Winckler, Patricia Zambone da Silva, Simone Chaves Fagondes, Renata Salatti Ferrari, Claudia Denise de Oliveira Trojahn, Viviane Zechlinski Sacharuk, Thayne Woycinck Kowalski, Karina Carvalho Donis, Michele Michelin Becker, Jonas Alex Morales Saute

Source: Jornal de Pediatria, Vol 101, Iss 1, Pp 38-45 (2025)

Subject Terms: Spinal muscular atrophy, Nusinersen, Onasemnogene abeparvovec, Risdiplam, Southern Brazil, Pediatrics, RJ1-570

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0021755724001268; https://doaj.org/toc/0021-7557

Access URL: https://doaj.org/article/cda47a679d364bcc9aac326679e87143

Estimated costs for Duchenne muscular dystrophy care in Brazil

Authors: Nayê Balzan Schneider, Erica Caetano Roos, Ana Lúcia Portella Staub, Isabela Possebon Bevilacqua, Ana Carolina de Almeida, Tamiê de Camargo Martins, Natalia Bergamelli Ramos, Priscilla Loze, Jonas Alex Morales Saute, Ana Paula Beck da Silva Etges, Carisi Anne Polanczyk

Source: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-8 (2023)

Subject Terms: Cost of illness, Muscular dystrophy, Duchenne, Neuromuscular diseases, Rare diseases, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/a117deb94fbd4293ba77621c4ab7dfe1