Late-Onset Pompe Disease with Normal Creatine Kinase Levels: The Importance of Rheumatological Suspicion

Pompe disease (PD), also defined as acid maltase deficiency, is a rare autosomal recessive disease that causes glycogen accumulation due to a deficiency of the lysosomal enzyme acid α-glucosidase. An excessive amount of undisposed glycogen causes progressive muscle weakness throughout the body. It p...

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Detalles Bibliográficos
Autores principales: Marotto, Daniela, Moschetti, Marta, Lo Curto, Alessia, Spezzigu, Anna M., Giacomarra, Miriam, Marsana, Emanuela M., Zizzo, Carmela, Duro, Giovanni, Colomba, Paolo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10649549/
https://www.ncbi.nlm.nih.gov/pubmed/37958907
http://dx.doi.org/10.3390/ijms242115924

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