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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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Furkejuvvon:
Váldodahkkit: Siiri Sarv, Tiina Kahre, Eve Vaidla, Sander Pajusalu, Kai Muru, Haide Põder, Katrin Gross-Paju, Sandra Ütt, Riina Žordania, Inga Talvik, Eve Õiglane-Shlik, Kristina Muhu, Katrin Õunap
Materiálatiipa: Artigo
Giella:Inglês
Almmustuhtton: Frontiers Media S.A. 2021-12-01
Ráidu:Frontiers in Genetics
Fáttát:
spinal muscular atrophy
epidemiology
newborn screening
birth prevalence
neuromuscular disease
Liŋkkat:https://www.frontiersin.org/articles/10.3389/fgene.2021.796862/full
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