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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Detalhes bibliográficos
Publicado no:Biomolecules
Main Authors: Kok, Ken, Zwiers, Kimberley C., Boot, Rolf G., Overkleeft, Hermen S., Aerts, Johannes M. F. G., Artola, Marta
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2021
Assuntos:
Review
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7918333/
https://ncbi.nlm.nih.gov/pubmed/33673160
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/biom11020271
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