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Hurler disease (mucopolysaccharidosis type IH): clinical features and consanguinity in Tunisian population
Mucopolysaccharidosis type I (MPS I) was a group of rare autosomal recessive disorder caused by the deficiency of the lysosomal enzyme, alpha -L -iduronidase, and the resulting accumulation of undergraded dematan sulfate and heparan sulfate. MPS I patients have a wide range of clinical presentations...
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| Главные авторы: | , , , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
BioMed Central
2011
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3261812/ https://ncbi.nlm.nih.gov/pubmed/22074387 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1746-1596-6-113 |
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