Matches in DBpedia 2014 for { <http://dbpedia.org/resource/SGSH> ?p ?o. }
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- SGSH abstract "N-sulphoglucosamine sulphohydrolase is an enzyme that in humans is encoded by the SGSH gene.A number sign (#) is used with this entry because the phenotype is caused by mutation in the gene encoding N-sulfoglucosamine sulfohydrolase (SGSH; MIM 605270). The Sanfilippo syndrome, or mucopolysaccharidosis III, is a lysosomal storage disease due to impaired degradation of heparan sulfate (Esposito et al., 2000 [PubMed 10727844]). MPS III includes 4 types, each due to the deficiency of a different enzyme: heparan N-sulfatase (type A); alpha-N-acetylglucosaminidase (type B; MIM 252920); acetyl CoA:alpha-glucosaminide acetyltransferase (type C; MIM 252930); and N-acetylglucosamine 6-sulfatase (type D; MIM 252940). The Sanfilippo syndrome is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Type A has been reported (van de Kamp et al., 1981 [PubMed 6796310]) to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival.[supplied by OMIM]This enzyme can also be found at N-sulfoglucosamine sulfohydrolase".
- SGSH entrezgene "6448".
- SGSH wikiPageID "14769397".
- SGSH wikiPageRevisionID "593035887".
- SGSH hasPhotoCollection SGSH.
- SGSH requireManualInspection "no".
- SGSH summaryText "3.15576E8".
- SGSH updateCitations "yes".
- SGSH updatePage "yes".
- SGSH updateProteinBox "yes".
- SGSH updateSummary "yes".
- SGSH type Biomolecule.
- SGSH type Protein.
- SGSH type BiologicalObject.
- SGSH comment "N-sulphoglucosamine sulphohydrolase is an enzyme that in humans is encoded by the SGSH gene.A number sign (#) is used with this entry because the phenotype is caused by mutation in the gene encoding N-sulfoglucosamine sulfohydrolase (SGSH; MIM 605270). The Sanfilippo syndrome, or mucopolysaccharidosis III, is a lysosomal storage disease due to impaired degradation of heparan sulfate (Esposito et al., 2000 [PubMed 10727844]).".
- SGSH label "SGSH".
- SGSH sameAs m.03gxcdz.
- SGSH sameAs Q7390094.
- SGSH sameAs Q7390094.
- SGSH sameAs SGSH.
- SGSH wasDerivedFrom SGSH?oldid=593035887.
- SGSH isPrimaryTopicOf SGSH.