Title : NAGLU mutations underlying Sanfilippo syndrome type B.

Pub. Date : 1998 Jan

PMID : 9443878






2 Functional Relationships(s)
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1 NAGLU mutations underlying Sanfilippo syndrome type B. Sanfilippo syndrome type B (mucopolysaccharidosis III B) is a rare autosomal recessive disease caused by deficiency of alpha-N-acetylglucosaminidase, one of the enzymes required for the lysosomal degradation of heparan sulfate. Heparitin Sulfate N-acetyl-alpha-glucosaminidase Homo sapiens
2 NAGLU mutations underlying Sanfilippo syndrome type B. Sanfilippo syndrome type B (mucopolysaccharidosis III B) is a rare autosomal recessive disease caused by deficiency of alpha-N-acetylglucosaminidase, one of the enzymes required for the lysosomal degradation of heparan sulfate. Heparitin Sulfate N-acetyl-alpha-glucosaminidase Homo sapiens