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The Birth Prevalence of Spinal Muscular Atrophy: A Population Specific Approach in Estonia

Background: Rare diseases are an important population health issue and many promising therapies have been developed in recent years. In light of novel genetic treatments expected to significantly improve spinal muscular atrophy (SMA) patients’ quality of life and the urgent need for SMA newborn scre...

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Detalles Bibliográficos
Autores principales: Sarv, Siiri, Kahre, Tiina, Vaidla, Eve, Pajusalu, Sander, Muru, Kai, Põder, Haide, Gross-Paju, Katrin, Ütt, Sandra, Žordania, Riina, Talvik, Inga, Õiglane-Shlik, Eve, Muhu, Kristina, Õunap, Katrin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8729775/
https://www.ncbi.nlm.nih.gov/pubmed/35003227
http://dx.doi.org/10.3389/fgene.2021.796862