Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center
Purpose Pompe disease (PD) is an autosomal recessive disorder caused by a deficiency of acid alphaglucosidase resulting from pathogenic GAA variants. This study describes the clinical features, genotypes, changes before and after enzyme replacement therapy (ERT), and long-term outcomes in patients w...
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| Main Authors: | , , , , , , , , , , , , , |
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| Format: | Book |
| Published: |
Korean Pediatric Society,
2019-06-01T00:00:00Z.
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| Subjects: | |
| Online Access: | Connect to this object online. |
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