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

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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Bibliographic Details
Main Authors: Ken Kok, Kimberley C. Zwiers, Rolf G. Boot, Hermen S. Overkleeft, Johannes M. F. G. Aerts, Marta Artola
Format: Article
Language:English
Published: MDPI AG 2021-02-01
Series:Biomolecules
Subjects:
lysosomal storage disorders
Fabry disease
α-galactosidase A
A4GALT
globotriaosylceramide (Gb3)
globotriaosyl-sphingosine (lysoGb3)
Online Access:https://www.mdpi.com/2218-273X/11/2/271

Internet

https://www.mdpi.com/2218-273X/11/2/271

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