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Hurler–Scheie syndrome in Niger: a case series
BACKGROUND: Hurler–Scheie syndrome is an intermediate form of mucopolysaccharidosis type I which is a rare lysosomal storage disorder caused by the deficiency or complete absence of enzyme alpha-L-iduronidase activity. We report the first documented cases of Hurler–Scheie syndrome observed in Niger...
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| Publicado no: | J Med Case Rep |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6482501/ https://ncbi.nlm.nih.gov/pubmed/31018863 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13256-019-2047-2 |
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