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

SIMPLE SUMMARY: Pompe disease is produced by an enzymatic deficiency that leads to aberrant accumulation of glycogen in in multiple tissues, mainly muscle, causing progressive heart, respiratory and motor failure. Dysregulations observed in these patients are derived from glycogen accumulation but a...

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Detalles Bibliográficos
Autores principales: Gómez-Cebrián, Nuria, Gras-Colomer, Elena, Poveda Andrés, José Luis, Pineda-Lucena, Antonio, Puchades-Carrasco, Leonor
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10525434/
https://www.ncbi.nlm.nih.gov/pubmed/37759559
http://dx.doi.org/10.3390/biology12091159

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10525434/
https://www.ncbi.nlm.nih.gov/pubmed/37759559
http://dx.doi.org/10.3390/biology12091159

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