Enzyme Replacement Therapy Can Reverse Pathogenic Cascade in Pompe Disease

Enzyme Replacement Therapy Can Reverse Pathogenic Cascade in Pompe Disease

Pompe disease, a deficiency of glycogen-degrading lysosomal acid alpha-glucosidase (GAA), is a disabling multisystemic illness that invariably affects skeletal muscle in all patients. The patients still carry a heavy burden of the disease, despite the currently available enzyme replacement therapy....

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Bibliographic Details
Main Authors: Naresh Kumar Meena, Evelyn Ralston, Nina Raben, Rosa Puertollano
Format: Article
Language:English
Published: Elsevier 2020-09-01
Series:Molecular Therapy: Methods & Clinical Development
Subjects:
Pompe disease
enzyme replacement therapy
lysosomal targeting
mTORC1/AMPK signaling
metabolome
muscle
Online Access:http://www.sciencedirect.com/science/article/pii/S2329050120301133

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http://www.sciencedirect.com/science/article/pii/S2329050120301133

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