Parsing Fabry Disease Metabolic Plasticity Using Metabolomics

Background: Fabry disease (FD) is an X-linked lysosomal disease due to a deficiency in the activity of the lysosomal α-galactosidase A (GalA), a key enzyme in the glycosphingolipid degradation pathway. FD is a complex disease with a poor genotype–phenotype correlation. FD could involve kidney, heart...

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Bibliographic Details
Main Authors: Franklin Ducatez, Wladimir Mauhin, Agnès Boullier, Carine Pilon, Tony Pereira, Raphaël Aubert, Olivier Benveniste, Stéphane Marret, Olivier Lidove, Soumeya Bekri, Abdellah Tebani
Format: Article
Language:English
Published: MDPI AG 2021-09-01
Series:Journal of Personalized Medicine
Subjects:
Online Access:https://www.mdpi.com/2075-4426/11/9/898