A rare late progression form of Sly syndrome mucopolysaccharidosis
Abstract 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 simp...
| Main Authors: | , , |
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| 格式: | 文件 |
| 语言: | English |
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Wiley
2019-09-01
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| 丛编: | JIMD Reports |
| 主题: | |
| 在线阅读: | https://doi.org/10.1002/jmd2.12039 |