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

Internet

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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