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

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

Abstract 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...

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Bibliographic Details
Main Authors: Rita Fischetto, Valentina Palladino, Maria M. Mancardi, Thea Giacomini, Stefano Palladino, Alberto Gaeta, Maja Di Rocco, Lucia Zampini, Giuseppe Lassandro, Vito Favia, Maria E. Tripaldi, Pietro Strisciuglio, Alfonso Romano, Mariasavina Severino, Amelia Morrone, Paola Giordano
Format: Article
Language:English
Published: Wiley 2020-10-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
GM1 gangliosidosis
Miglustat
pediatric
Online Access:https://doi.org/10.1002/mgg3.1371

Internet

https://doi.org/10.1002/mgg3.1371

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