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Biochemical Mechanisms beyond Glycosphingolipid Accumulation in Fabry Disease: Might They Provide Additional Therapeutic Treatments?

Fabry disease is a rare X-linked disease characterized by deficient expression and activity of alpha-galactosidase A (α-GalA) with consequent lysosomal accumulation of glycosphingolipid in various organs. Currently, enzyme replacement therapy is the cornerstone of the treatment of all Fabry patients...

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Detalles Bibliográficos
Autores principales:	Bertoldi, Giovanni, Caputo, Ilaria, Driussi, Giulia, Stefanelli, Lucia Federica, Di Vico, Valentina, Carraro, Gianni, Nalesso, Federico, Calò, Lorenzo A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10004377/ https://www.ncbi.nlm.nih.gov/pubmed/36902850 http://dx.doi.org/10.3390/jcm12052063

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