Current pharmacotherapy and diagnostic methods of Pompe Disease in Poland
Pompe disease is estimated to happen in 1 out of 40 000 borns. It is rare metabolic disease connected to autosomal recessive genetic mutation. Disease is characterised by deficit of α-glucosidase (GAA) which is lysosomal glycogen hydrolizing enzyme acid. Decreased activity of enzyme leads to glycoge...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Kazimierz Wielki University
2019-09-01
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| Series: | Journal of Education, Health and Sport |
| Subjects: | |
| Online Access: | https://apcz.umk.pl/JEHS/article/view/27384 |