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Article

Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome)

20 Jun 2011

Abstract excerpt

BACKGROUND: Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is a lysosomal storage disorder caused by a deficiency of one of the enzymes involved in the degradation of heparan sulfate. MPS III is characterized by progressive mental deterioration resulting in severe dementia. A number of potentially disease-modifying therapies are studied. As preservation of cognitive function is the ultimate goal of...

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PMID: 21689409
DOI: 10.1186/1750-1172-6-43

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