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Elevated cerebral spinal fluid biomarkers in children with mucopolysaccharidosis I-H
Mucopolysaccharidosis (MPS) type-IH is a lysosomal storage disease that results from mutations in the IDUA gene causing the accumulation of glycosaminoglycans (GAGs). Historically, children with the severe phenotype, MPS-IH (Hurler syndrome) develop progressive neurodegeneration with death in the fi...
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| Publicado no: | Sci Rep |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5133554/ https://ncbi.nlm.nih.gov/pubmed/27910891 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep38305 |
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