Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism

Pompe disease is an inherited metabolic myopathy caused by deficiency of acid alpha‐glucosidase (GAA), resulting in lysosomal glycogen accumulation. Residual GAA enzyme activity affects disease onset and severity, although other factors, including dysregulation of cytoplasmic glycogen metabolism, ar...

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Detalles Bibliográficos
Autores principales: Canibano‐Fraile, Rodrigo, Harlaar, Laurike, dos Santos, Carlos A., Hoogeveen‐Westerveld, Marianne, Demmers, Jeroen A. A., Snijders, Tim, Lijnzaad, Philip, Verdijk, Robert M., van der Beek, Nadine A. M. E., van Doorn, Pieter A., van der Ploeg, Ans T., Brusse, Esther, Pijnappel, W. W. M. Pim, Schaaf, Gerben J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10092494/
https://www.ncbi.nlm.nih.gov/pubmed/36111639
http://dx.doi.org/10.1002/jimd.12560

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