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Prediction of phenotypic severity in mucopolysaccharidosis type IIIA

OBJECTIVE: Mucopolysaccharidosis IIIA or Sanfilippo disease type A is a progressive neurodegenerative disorder presenting in early childhood, caused by an inherited deficiency of the lysosomal hydrolase sulfamidase. New missense mutations, for which genotype–phenotype correlations are currently unkn...

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Detalles Bibliográficos
Autores principales:	Knottnerus, Suzan J. G., Nijmeijer, Stephanie C. M., IJlst, Lodewijk, te Brinke, Heleen, van Vlies, Naomi, Wijburg, Frits A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2017
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5725696/ https://www.ncbi.nlm.nih.gov/pubmed/29023963 http://dx.doi.org/10.1002/ana.25069

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