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A Genome Engineered Human Embryonic Stem Cell line to Investigate Pompe Disease

2025-09-02

Abstract excerpt

<title>Abstract</title> <p> Background Pompe disease is an autosomal recessive lysosomal storage disorder caused by mutations in the <italic>GAA</italic> gene, leading to acid alpha-glucosidase deficiency and pathological glycogen accumulation, primarily in cardiac and skeletal muscle. While enzyme replacement therapy (ERT) has improved clinical outcomes, its limited efficacy especially in skeletal muscle unde...

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Literature Corpus work: ce90a904-4dc7-55f9-a6b0-df78d00c588e
DOI: 10.21203/rs.3.rs-7423302/v1

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