The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).

@article{Meyer2008TheMP,
  title={The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).},
  author={Ann Meyer and Kai Kossow and Andreas Gal and Cordula Steglich and Chris M{\"u}hlhausen and Kurt Ullrich and Thomas Braulke and Nicole Muschol},
  journal={Human mutation},
  year={2008},
  volume={29 5},
  pages={770}
}
Mucopolysaccharidosis type IIIA (MPS IIIA, Sanfilippo A syndrome) is caused by mutations in the N-sulfoglucosamine sulfohydrolase (SGSH) gene and the resulting defective lysosomal degradation of the glycosaminoglycan heparan sulfate. The onset and progression of the disease are highly variable. Seventy-five mutations distributed over the SGSH gene have been described. We here report on the analysis of the natural course of the disease in 54 MPS IIIA patients through the use of a detailed… CONTINUE READING
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The Mucopolysaccharidoses

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