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...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v:Biomolecules
Main Authors: Kok, Ken, Zwiers, Kimberley C., Boot, Rolf G., Overkleeft, Hermen S., Aerts, Johannes M. F. G., Artola, Marta
Format: Artigo
Jezik:Inglês
Izdano: MDPI 2021
Teme:
Review
Online dostop: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
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki