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Fabry Disease: Molecular Basis, Pathophysiology, Diagnostics and Potential Therapeutic Directions

Fabry disease (FD) is a lysosomal storage disorder (LSD) characterized by the deficiency of α-galactosidase A (α-GalA) and the consequent accumulation of toxic metabolites such as globotriaosylceramide (Gb3) and globotriaosylsphingosine (lysoGb3). Early diagnosis and appropriate timely treatment of...

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Detalles Bibliográficos
Autores principales:	Kok, Ken, Zwiers, Kimberley C., Boot, Rolf G., Overkleeft, Hermen S., Aerts, Johannes M. F. G., Artola, Marta
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7918333/ https://www.ncbi.nlm.nih.gov/pubmed/33673160 http://dx.doi.org/10.3390/biom11020271

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