L-alanine supplementation in Pompe disease (IOPD): a potential therapeutic implementation for patients on ERT? A case report

BACKGROUND: Pompe disease (PD) is a disorder of glycogen metabolism conditioning a progressive and life conditioning myopathy. Enzyme replacement therapy (ERT) is currently the best treatment option for PD, but is not resolutive. While other potential therapeutic approaches have been reported before...

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Detalles Bibliográficos
Autores principales: Rovelli, Valentina, Zuvadelli, Juri, Piotto, Marta, Scopari, Andrea, Dionigi, Alice Re, Ercoli, Vittoria, Paci, Sabrina, Cefalo, Graziella, Salvatici, Elisabetta, Banderali, Giuseppe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8962230/
https://www.ncbi.nlm.nih.gov/pubmed/35346323
http://dx.doi.org/10.1186/s13052-022-01249-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8962230/
https://www.ncbi.nlm.nih.gov/pubmed/35346323
http://dx.doi.org/10.1186/s13052-022-01249-y

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