Article
Mouse model of Sanfilippo syndrome type B: relation of phenotypic features to background strain.
Comparative medicine - 1 Dec 2003
Gografe Sylvia I, Garbuzova-Davis Svitlana, Willing Alison E, Haas Ken, Chamizo Wilfredo, Sanberg Paul R
Abstract excerpt
Sanfilippo syndrome type B or mucopolysaccharidosis type III B (MPS IIIB) is a lysosomal storage disorder that is inherited in autosomal recessive manner. It is characterized by systemic heparan sulfate accumulation in lysosomes due to deficiency of the enzyme alpha-N-acetylglucosaminidase (Naglu). Devastating clinical abnormalities with severe central nervous system involvement and somatic disease lead to...
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