The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile

OBJECTIVE: The objectives of this study were to define the clinical and biochemical spectrum of spinal muscular atrophy with progressive myoclonic epilepsy (SMA‐PME) and to determine if aberrant cellular ceramide accumulation could be normalized by enzyme replacement. METHODS: Clinical features of 6...

Descripción completa

Detalles Bibliográficos
Autores principales: Lee, Michelle M., McDowell, Graeme S. V., De Vivo, Darryl C., Friedman, Daniel, Berkovic, Samuel F., Spanou, Maria, Dinopoulos, Argirios, Grand, Katheryn, Sanchez‐Lara, Pedro A., Allen‐Sharpley, Michelle, Warman‐Chardon, Jodi, Solyom, Alexander, Levade, Thierry, Schuchman, Edward H., Bennett, Steffany A. L., Dyment, David A., Pearson, Toni S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9735369/
https://www.ncbi.nlm.nih.gov/pubmed/36325744
http://dx.doi.org/10.1002/acn3.51687

Ejemplares similares

Ejemplares similares