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A Case of Sanfillippo’s Disease Correlating Clinical and Biochemical Findings
The mucopolysaccharidoses (MPSs) are a heterogeneous group of rare inherited disorders caused by deficiency of lysosomal enzyme necessary to break down mucopolysaccharides or glycosaminoglycans (GAGs). We had combined clinical findings and ophthalmological features. Biochemical test for urine glycos...
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| Autores principales: | , , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Springer India
2014
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4175692/ https://ncbi.nlm.nih.gov/pubmed/25298638 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12291-014-0420-x |
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