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Non-progressive Nonimmune Hydrops Fetalis Caused by a Novel Mutation in GUSB Gene
Objectives: Mucopolysaccharidosis type VII (MPS VII) or Sly syndrome is a rare autosomal recessive disorder caused by deficiency of β-glucuronidase enzyme, which is involved in degradation of glycosaminoglycans. The lack of β-glucuronidase in this lysosomal storage disorder is characterized by vario...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Shahid Beheshti University of Medical Sciences
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7085123/ https://www.ncbi.nlm.nih.gov/pubmed/32256629 |