In vitro and in vivo effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsy

Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by mutations in the acid β-glucosidase encoding gene (GBA1), resulting in the deficient activity of acid β-glucosidase (GCase). To date, there is no approved treatment for the neurological manifestations of the disease....

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Detalles Bibliográficos
Autores principales: Ciana, Giovanni, Dardis, Andrea, Pavan, Eleonora, Da Riol, Rosalia Maria, Biasizzo, Jessica, Ferino, Dania, Zanatta, Manuela, Boni, Antonella, Antonini, Luisa, Crichiutti, Giovanni, Bembi, Bruno
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7691604/
https://www.ncbi.nlm.nih.gov/pubmed/33294373
http://dx.doi.org/10.1016/j.ymgmr.2020.100678

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