Infantile Pompe disease with intrauterine onset: a case report and literature review
Abstract Background Pompe disease is a rare autosomal recessive disease. Acid alpha−glucosidase (GAA) deficiency leads to glycogen storage in lysosomes, causing skeletal, cardiac, and smooth muscle lesions. Pompe disease is progressive, and its severity depends on the age of onset. Classic infantile...
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| Main Authors: | , , , , , |
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| Format: | Book |
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BMC,
2022-11-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |