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Monitoring and Management of Respiratory Function in Pompe Disease: Current Perspectives

Pompe disease (PD) is a neuromuscular disorder caused by a deficiency of acid alpha-glucosidase (GAA) – a lysosomal enzyme responsible for hydrolyzing glycogen. GAA deficiency leads to accumulation of glycogen in lysosomes, causing cellular disruption. The severity of PD is directly related to the e...

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Detalles Bibliográficos
Autores principales:	El Haddad, Léa, Khan, Mainur, Soufny, Rania, Mummy, David, Driehuys, Bastiaan, Mansour, Wissam, Kishnani, Priya S, ElMallah, Mai K
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Dove 2023
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10480292/ https://www.ncbi.nlm.nih.gov/pubmed/37680303 http://dx.doi.org/10.2147/TCRM.S362871

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