Heparan sulfate N-sulfohydrolase

Sanfilippo s syndrome Heparan sulfate Heparan sulfate N-sulfohydrolase Brain, bone... 

Sanfilippo s syndrome is an inherited genetic disorder of heparan sulfate catabolism, characterized by progressive mental retardation, mild skeletal deformities, and excretion of excessive amounts of heparan sulfate in the urine (Dorfman and Matalon, 1976 McKusick, 1972). A deficiency of heparan sulfiite N-sulfohydrolase is responsible for the pathogenesis of Sanfilippo s syndrome (type A) (Kresse and Neufeld, 1972 Kresse, 1973 Hop-wood and Elliott, 1981). The patients and heterozygotes are diagnosed by estimating heparan sulfate N-sulfohydrolase activity in fibroblasts and peripheral leukocytes (Schmidt et al., 1977). 

N-Acetylglucosaniine 6-sulfate sulfohydrolase Monosulfated trisaccharide of heparan sulfate 5.5 0.15 10.0... 

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