Establishment of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in Saint Petersburg

• Principais autores: Anton Kiselev (Autor), Marianna Maretina (Autor), Sofia Shtykalova (Autor), Haya Al-Hilal (Autor), Natalia Maslyanyuk (Autor), Mariya Plokhih (Autor), Elena Serebryakova (Autor), Marina Frolova (Autor), Natalia Shved (Autor), Nadezhda Krylova (Autor), Arina Il'ina (Autor), Svetlana Freund (Autor), Natalia Osinovskaya (Autor), Iskender Sultanov (Autor), Anna Egorova (Autor), Anastasia Lobenskaya (Autor), Alexander Koroteev (Autor), Irina Sosnina (Autor), Yulia Gorelik (Autor), Olesya Bespalova (Autor), Vladislav Baranov (Autor), Igor Kogan (Autor), Andrey Glotov (Autor)
• Formato: Livro
• Publicado em: MDPI AG, 2024-01-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Spinal muscular atrophy 5q (SMA) is one of the most common neuromuscular inherited diseases and is the most common genetic cause of infant mortality. SMA is associated with homozygous deletion of exon 7 in the <i>SMN1</i> gene. Recently developed drugs can improve the motor functions of...