Title : Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase.

Pub. Date : 2003 Jan

PMID : 12573255






2 Functional Relationships(s)
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1 Mucopolysaccharidosis type IIID (MPS IIID; Sanfilippo syndrome type D; MIM 252940) is caused by deficiency of the activity of N-acetylglucosamine-6-sulfatase (GNS), which is normally required for degradation of heparan sulfate. Heparitin Sulfate glucosamine (N-acetyl)-6-sulfatase Homo sapiens
2 Mucopolysaccharidosis type IIID (MPS IIID; Sanfilippo syndrome type D; MIM 252940) is caused by deficiency of the activity of N-acetylglucosamine-6-sulfatase (GNS), which is normally required for degradation of heparan sulfate. Heparitin Sulfate glucosamine (N-acetyl)-6-sulfatase Homo sapiens