Acid α-glucosidase (GAA) activity and glycogen content in muscle biopsy specimens of patients with Pompe disease: A systematic review

Pompe disease is a rare genetic disorder characterized by a deficiency of acid α-glucosidase (GAA), leading to the accumulation of glycogen in various tissues, especially in skeletal muscles. The disease manifests as a large spectrum of phenotypes from infantile-onset Pompe disease (IOPD) to late-on...

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Huvudupphov:	Benedikt Schoser, Nina Raben, Fatbardha Varfaj, Mark Walzer, Antonio Toscano
Materialtyp:	Artigo
Språk:	Inglês
Utgiven:	Elsevier 2024-06-01
Serie:	Molecular Genetics and Metabolism Reports
Ämnen:	Pompe disease Skeletal muscle biopsy Acid α-glucosidase Glycogen
Länkar:	http://www.sciencedirect.com/science/article/pii/S2214426924000387
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