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A rare late progression form of Sly syndrome mucopolysaccharidosis
Mucopolysaccharidoses VII, or Sly syndrome, is linked to mutations in the beta‐glucuronidase encoding gene. Sly syndrome is a rare condition and presentation is highly variable, ranging from a prenatal form with severe, lethal fetal hydrops to more benign adolescent or adult forms with simple thorac...
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| Publicado no: | JIMD Rep |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley & Sons, Inc.
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6718110/ https://ncbi.nlm.nih.gov/pubmed/31497474 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12039 |
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