Pilot Program of Newborn Screening for 5q Spinal Muscular Atrophy in the Russian Federation

• Main Authors: Kristina Mikhalchuk (Author), Olga Shchagina (Author), Alena Chukhrova (Author), Viktoria Zabnenkova (Author), Polina Chausova (Author), Nina Ryadninskaya (Author), Dmitry Vlodavets (Author), Sergei I. Kutsev (Author), Alexander Polyakov (Author)
• Formato: Livro
• Publicado em: MDPI AG, 2023-05-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

5q spinal muscular atrophy (5q SMA) is one of the most common autosomal recessive disorders in the Russian Federation. The first medication to treat 5q SMA was registered in the Russian Federation for treatment of all 5q SMA types in 2019, and the last of the three currently available in December 20...