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 dysfunc...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Kazimierz Wielki University
2023-02-01
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| Series: | Journal of Education, Health and Sport |
| Subjects: | |
| Online Access: | https://apcz.umk.pl/JEHS/article/view/42192 |