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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3261812/ https://www.ncbi.nlm.nih.gov/pubmed/22074387 http://dx.doi.org/10.1186/1746-1596-6-113 |