Article

A case of infantile Pompe disease with intrauterine onset and literature review

2022-07-11

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold>: Pompe disease is a rare autosomal recessive disease.Acid alpha-glucosidase deficiency leads to glycogen storage in lysosomes, causing skeletal muscle, cardiac muscle and smooth muscle lesions.Pompe disease is progressive and the severity of the disease depends on the age of onset.The most severe form, known as classic infantile Pompe disease (IOPD), characterize...

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Literature Corpus work: 5ea3ca48-b622-5801-81a5-37f8dcac96f2
DOI: 10.21203/rs.3.rs-1769098/v1

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