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...
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| Principais autores: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
MDPI AG
2023-06-01
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| Series: | Biomedicines |
| Assuntos: | |
| Acceso en liña: | https://www.mdpi.com/2227-9059/11/6/1668 |
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