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...
שמור ב:
| Principais autores: | , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
MDPI AG
2023-06-01
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| סדרה: | Biomedicines |
| נושאים: | |
| גישה מקוונת: | https://www.mdpi.com/2227-9059/11/6/1668 |
| תגים: |
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