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,...

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Detalles Bibliográficos
Publicado en:Mol Genet Genomic Med
Main Authors: 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: Artigo
Idioma:Inglês
Publicado: John Wiley and Sons Inc. 2020
Assuntos:
Clinical Reports
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7549581/
https://ncbi.nlm.nih.gov/pubmed/32779865
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1371
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