Title : Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients.

Pub. Date : 2000 Dec

PMID : 11153910






1 Functional Relationships(s)
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1 Sanfilippo syndrome type B (mucopolysaccharidosis IIIB) is a rare autosomal recessive disorder characterized by the inability to degrade heparan sulfate because of a deficiency of the lysosomal enzyme alpha-N-acetylglucosaminidase (NAGLU). Heparitin Sulfate N-acetyl-alpha-glucosaminidase Homo sapiens