Hurler–Scheie syndrome in Niger: a case series
Abstract 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 i...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2019-04-01
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| Series: | Journal of Medical Case Reports |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13256-019-2047-2 |