Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience

BACKGROUND: In GM1 gangliosidosis the lack of function of β‐galactosidase results in an accumulation of GM1 ganglioside and related glycoconjugates in visceral organs, and particularly in the central nervous system, leading to severe disability and premature death. In the type 2 form of the disease,...

Descripción completa

Detalles Bibliográficos
Autores principales: Fischetto, Rita, Palladino, Valentina, Mancardi, Maria M., Giacomini, Thea, Palladino, Stefano, Gaeta, Alberto, Di Rocco, Maja, Zampini, Lucia, Lassandro, Giuseppe, Favia, Vito, Tripaldi, Maria E., Strisciuglio, Pietro, Romano, Alfonso, Severino, Mariasavina, Morrone, Amelia, Giordano, Paola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549581/
https://www.ncbi.nlm.nih.gov/pubmed/32779865
http://dx.doi.org/10.1002/mgg3.1371

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549581/
https://www.ncbi.nlm.nih.gov/pubmed/32779865
http://dx.doi.org/10.1002/mgg3.1371

Ejemplares similares