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Therapeutic Options for the Management of Pompe Disease: Current Challenges and Clinical Evidence in Therapeutics and Clinical Risk Management

Pompe disease is a genetic disorder produced by mutations in the GAA gene leading to absence or reduced expression of acid alpha-glucosidase, an enzyme that metabolizes the breakdown of glycogen into glucose. There are two main phenotypes, the infantile consisting of early onset severe weakness and...

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Detalles Bibliográficos
Autores principales: Bolano-Diaz, Carla, Diaz-Manera, Jordi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9759116/
https://www.ncbi.nlm.nih.gov/pubmed/36536827
http://dx.doi.org/10.2147/TCRM.S334232

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