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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Detalles Bibliográficos
Autor principal: Kartal, Ayşe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Case Report
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

Internet

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

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