Diagnosis and Management of Mucopolysaccharidosis Type II (Hunter Syndrome) in Poland
Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is a rare, inherited lysosomal storage disease. The disease is caused by deficiency of the lysosomal enzyme iduronate-2-sulphatase (I2S) due to mutations in the <i>IDS</i> gene, which leads to accumulation of glycosaminoglycans (G...
Gespeichert in:
| Hauptverfasser: | , , , , |
|---|---|
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
MDPI AG
2023-06-01
|
| Schriftenreihe: | Biomedicines |
| Schlagworte: | |
| Online-Zugang: | https://www.mdpi.com/2227-9059/11/6/1668 |
| Tags: |
Keine Tags, Fügen Sie das erste Tag hinzu!
|