Molecular study of Pompe disease in Egyptian infants
Abstract Background Pompe disease (PD) is a serious genetic disorder caused by deficiency of acid α-glucosidase (GAA) and subsequent glycogen accumulation inside lysosomes. This study included a cohort of 5 Egyptian infants (1–8 months old) with far lower than average normal GAA activity and clinica...
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| Main Authors: | , , , , |
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| Format: | article |
| Language: | EN |
| Published: |
SpringerOpen
2021
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| Subjects: | |
| Online Access: | https://doaj.org/article/80b1f9edba774b38a0beb7b458a44e09 |
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