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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Dades bibliogràfiques
Publicat a:Mol Genet Genomic Med
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2020
Matèries:
Clinical Reports
Accés en línia: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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