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The Clinical Management of Pompe Disease: A Pediatric Perspective

Pompe disease (PD) is an inherited metabolic disorder caused by a deficiency of acid α-glucosidase (GAA), leading to lysosomal accumulation of glycogen, mainly in skeletal and cardiac muscles as well as the nervous system. Patients with PD develop cellular dysfunction and muscle damage. PD can be cl...

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Detalles Bibliográficos
Autor principal: Marques, Jorge Sales
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9497581/
https://www.ncbi.nlm.nih.gov/pubmed/36138713
http://dx.doi.org/10.3390/children9091404