Early spinal muscular atrophy treatment following newborn screening: A 20-month review of the first Italian regional experience.
Delia GagliardiEleonora CanzioPaola OrsiniPasquale ContiVita SinisiCosimo MaggioreMaria Carla SantarsiaGiuseppina LagioiaGiovanna LupisIsabella RoppaGaetano ScianaticoDaniela ManciniStefania P CortiGiacomo Pietro ComiMattia GentileDelio GagliardiPublished in: Annals of clinical and translational neurology (2024)
The timely administration of disease-modifying therapies prevented presymptomatic subjects to develop disease symptoms. Mandatory NBS for SMA should be implemented on a national scale.