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...

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Detalles Bibliográficos
Autores principales: Poswar, Fabiano de Oliveira, Henriques Nehm, Johanna, Kubaski, Francyne, Poletto, Edina, Giugliani, Roberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2022
Materias:
Review
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

Internet

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

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