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...

Descripción completa

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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8836454/
https://www.ncbi.nlm.nih.gov/pubmed/35163813
http://dx.doi.org/10.3390/ijms23031887

Ejemplares similares