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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| Autores principales: | , , , , |
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| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
SpringerOpen
2021
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| Materias: | |
| Acceso en línea: | https://doaj.org/article/80b1f9edba774b38a0beb7b458a44e09 |
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