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...
| Egile Nagusiak: | , , , , |
|---|---|
| Formatua: | Artikulua |
| Hizkuntza: | English |
| Argitaratua: |
Kazimierz Wielki University
2019-09-01
|
| Saila: | Journal of Education, Health and Sport |
| Gaiak: | |
| Sarrera elektronikoa: | https://apcz.umk.pl/JEHS/article/view/27384 |