Omics-Based Approaches for the Characterization of Pompe Disease Metabolic Phenotypes

Omics-Based Approaches for the Characterization of Pompe Disease Metabolic Phenotypes

Lysosomal storage disorders (LSDs) constitute a large group of rare, multisystemic, inherited disorders of metabolism, characterized by defects in lysosomal enzymes, accessory proteins, membrane transporters or trafficking proteins. Pompe disease (PD) is produced by mutations in the acid alpha-gluco...

Full description

Bibliographic Details
Main Authors: Nuria Gómez-Cebrián, Elena Gras-Colomer, José Luis Poveda Andrés, Antonio Pineda-Lucena, Leonor Puchades-Carrasco
Format: Article
Language:English
Published: MDPI AG 2023-08-01
Series:Biology
Subjects:
lysosomal storage disorders
glycogen storage disease
Pompe disease
omics
multi-omics
metabolic phenotype
Online Access:https://www.mdpi.com/2079-7737/12/9/1159

Internet

https://www.mdpi.com/2079-7737/12/9/1159

Similar Items