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Delayed speech, hyperactivity, and coarse facies: Does Sanfilippo syndrome come to mind?
Mucopolysaccharidosis Type IIIA (MPS IIIA) or Sanfilippo-A syndrome is caused by a deficiency in lysosomal a-heparan N-sulfatase. Its clinical manifestations include progressive dementia, hyperactivity, and aggressive behavior. Unlike other mucopolysaccharide disorders, the diagnosis of MPS IIIA is...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Medknow Publications & Media Pvt Ltd
2016
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5108143/ https://www.ncbi.nlm.nih.gov/pubmed/27857809 http://dx.doi.org/10.4103/1817-1745.193378 |