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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Bibliografiske detaljer

Principais autores:	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:	Artigo
Sprog:	Inglês
Udgivet:	Wiley 2020-10-01
Serier:	Molecular Genetics & Genomic Medicine
Fag:	GM1 gangliosidosis Miglustat pediatric
Online adgang:	https://doi.org/10.1002/mgg3.1371
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