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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: Datta, Priyanka, Prasad, Anushre, Shenoy, Vijetha, Hebbar, Shrikiran, Mundkur, Suneel C., Rao, Pragna
Formato: Artigo
Lenguaje:Inglês
Publicado: Springer India 2014
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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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