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Chaperone Therapy in Fabry Disease

Fabry disease is an X-linked lysosomal multisystem storage disorder induced by a mutation in the alpha-galactosidase A (GLA) gene. Reduced activity or deficiency of alpha-galactosidase A (AGAL) leads to escalating storage of intracellular globotriaosylceramide (GL-3) in numerous organs, including th...

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Detalles Bibliográficos
Autores principales:	Weidemann, Frank, Jovanovic, Ana, Herrmann, Ken, Vardarli, Irfan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8836454/ https://www.ncbi.nlm.nih.gov/pubmed/35163813 http://dx.doi.org/10.3390/ijms23031887

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