NOT EVERY RESPIRATORY FAILURE NOWDAYS IS COVID. POMPE DISEASE
| Autor: | Gržan, Dina, Pećin, Ivan, Galjuf, Vesna |
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| Jazyk: | angličtina |
| Rok vydání: | 2022 |
| Předmět: | |
| Zdroj: | Liječnički vjesnik Volume 144 Issue Supp 2 |
| ISSN: | 1849-2177 0024-3477 |
| Popis: | Pompe disease, also known as glycogen storage disease type II, is an autosomal recessive disorder caused by deficiency of the lysosomal enzyme acid-α-glucosidase. It is a chronic and progressive disease characterized by storage of glycogen mostly in muscles. Late onset cases typically present with proximal muscle weakness and respiratory insufficiency or exertional dyspnea. Treatment is now available with intravenous infusion of recombinant acid α-glucosidase. |
| Databáze: | OpenAIRE |
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