One-Year Pilot Study Results of Newborn Screening for Spinal Muscular Atrophy in the Republic of Croatia

• Main Authors: Darija Šimić (Author), Ana Šarić (Author), Ana Škaričić (Author), Ivan Lehman (Author), Branka Bunoza (Author), Ivana Rako (Author), Ksenija Fumić (Author)
• Format: Book
• Published: MDPI AG, 2024-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Spinal muscular atrophy (SMA) is a neuromuscular and neurodegenerative disease caused by the homozygous deletion of <i>SMN1</i> exon 7 in 95% of cases. The prognosis for SMA patients has improved with the development of disease-modifying therapies, all of which are available in Croatia....