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Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome)
Mucopolysaccharidosis VII (MPS VII, Sly syndrome) is an ultra-rare lysosomal disease caused by a deficiency of the enzyme β-glucuronidase (GUS). The diagnosis is suspected based on a range of symptoms that are common to many other MPS types, and it is confirmed through biochemical and molecular stud...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Dove
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9791935/ https://www.ncbi.nlm.nih.gov/pubmed/36578769 http://dx.doi.org/10.2147/TCRM.S351300 |