Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism
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DOI: 10.1002/jimd.12560
Abstract: 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… read more here.
Keywords: lysosomal glycogen; disease; cytoplasmic glycogen; pompe disease ... See more keywords