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Prenatal Management of Spinal Muscular Atrophy in the Era of Genetic Screening and Emerging Opportunities in In Utero Therapy

Spinal muscular atrophy (SMA) is a severe autosomal recessive neuromuscular disorder and a leading genetic cause of infant mortality. Advances in disease-modifying therapies have significantly improved outcomes when treatment is initiated early, underscoring the importance of timely diagnosis. With...

Celý popis

Uloženo v:
Hlavní autoři: Silvestar Mežnarić, Andrej Belančić, Valentino Rački, Dinko Vitezić, Jasenka Mršić-Pelčić, Kristina Pilipović
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI AG 2025-07-01
Edice:Biomedicines
Témata:
spinal muscular atrophy
fetal therapies
prenatal diagnosis
genetic testing
On-line přístup:https://www.mdpi.com/2227-9059/13/8/1796
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