Parsing Fabry Disease Metabolic Plasticity Using Metabolomics.

Franklin DucatezWladimir MauhinAgnès BoullierCarine PilonTony PereiraRaphaël AubertOlivier BenvenisteStéphane MarretOlivier LidoveSoumeya Bekri Abdellah Tebani

Published in: Journal of personalized medicine (2021)

These results highlight deep metabolic remodeling in FD and confirm the potential of omics-based approaches in lysosomal diseases to reveal clinical and biological associations to generate pathophysiological hypotheses.

Keyphrases

single cell
mass spectrometry
genome wide
replacement therapy
heart failure
hypertrophic cardiomyopathy
risk assessment
gene expression