Article
[Sanfilippo Syndrome].
Vestnik Rossiiskoi akademii meditsinskikh nauk - 1 Jan 2015
Osipova L A, Kuzenkova L M, Namazova-Baranova L S, Gevorkyan A K, Podkletnova T V, Vashakmadze N D
Abstract excerpt
Sanfilippo syndrome (mucopolysaccharidosis type III) is a lysosomal disorder caused by a defect in the catabolism of heparan sulfate. Mucopolysaccharidosis type III is the most common type of all mucopolysaccharidoses. The pathogenic basis of the disease consists of the storage of undegraded substrate in the central nervous system. Progressive cognitive decline resulting in dementia and behavioural abnormalities...
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