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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...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Kazimierz Wielki University
2019-09-01
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| Colecção: | Journal of Education, Health and Sport |
| Assuntos: | |
| Acesso em linha: | http://www.ojs.ukw.edu.pl/index.php/johs/article/view/7491 |
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