Natural history of Sanfilippo syndrome in Spain

BACKGROUND: Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is caused by a deficiency in one of the four enzymes involved in the lysosomal degradation of heparan sulphate. Four MPS III types have been recognized, characterized by a large phenotypic heterogeneity. This is the first...

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Detalles Bibliográficos
Autores principales: Delgadillo, Verónica, O’Callaghan, Maria del Mar, Gort, Laura, Coll, Maria Josep, Pineda, Mercedes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3879199/
https://www.ncbi.nlm.nih.gov/pubmed/24314109
http://dx.doi.org/10.1186/1750-1172-8-189

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3879199/
https://www.ncbi.nlm.nih.gov/pubmed/24314109
http://dx.doi.org/10.1186/1750-1172-8-189

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