Clinical and Functional Characteristics of a New Phenotype of SMA Type I among a National Sample of Spanish Children: A Cross-Sectional Study

• Hlavní autoři: Beatriz de- (Autor), Javier Güeita-Rodríguez (Autor), Domingo Palacios-Ceña (Autor), Ángel Luis Rodríguez-Fernández (Autor)
• Médium: Kniha
• Vydáno: MDPI AG, 2023-05-01T00:00:00Z.
• Témata: article
• On-line přístup: Connect to this object online.

Spinal Muscular Atrophy (SMA) type I has classically presented extremely severe clinical features. New pharmacological treatments have led to a new phenotype of SMA. The aim of this study was to describe the current health and functional status of children with SMA. A cross-sectional study was condu...