Pompe disease - What do we currently know about the disease?
• Introduction: Pompe disease (PD) is a rare metabolic disorder caused by a partial or complete deficiency of acid α-glucosidase (GAA) which leads to lysosomal accumulation of glycogen. Excessive amounts of glycogen accumulate mainly in the cells of the heart and skeletal muscles and cause dysfuncti...
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| Main Authors: | , , , , , |
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| Format: | Book |
| Published: |
Kazimierz Wielki University,
2023-02-01T00:00:00Z.
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| Subjects: | |
| Online Access: | Connect to this object online. |
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