EC Number   |
Application |
Reference |
|---|
   3.1.6.13 | analysis |
direct assay for enzyme activity using substrate 4-methylumbelliferyl alpha-L-idopyranosiduronic acid 2-sulfate and LC-MS/MS based detection |
750337 |
| 3.1.6.13 | diagnostics |
sulfatases are potential therapeutic biopharmaceuticals |
714554 |
| 3.1.6.13 | drug development |
HIRMAb-IDS fusion protein is a bifunctional IgG-sulfatase fusion protein, specifically engineered for targeted drug delivery across the human blood-brain barrier |
707600 |
| 3.1.6.13 | medicine |
analysis of 11 patients with mutations in the IDS gene leading to mucopolysaccharidosis type II. Structural alteration in the IDS protein results in its rapid degradation and/or insufficiency in processing |
681229 |
| 3.1.6.13 | medicine |
analysis of mutations identified in patients with mucopolysaccharidosis type II. Mutations lead to aberrant precursor forms and loss of normal maturation of precursor. Mutant enzymes exhibit 2-4% of wild-type activity |
679290 |
| 3.1.6.13 | medicine |
animal model for mucopolysaccharidosis |
135572 |
| 3.1.6.13 | medicine |
application of a combined assay for defects in iduronate-2-sulfatase (ID2S) leading to mucopolysaccharidosis II, and N-acetylgalactosamine-6-sulfatase (GALN) and N-acetylgalactosamine-4-sulfatase (ARSB) defects related to mucopolysaccharidosis IVA and MPS VI, respectively. The average enzyme activities of ID2S, GALN, and ARSB in random neonates are 19.6, 1.7, and 13.4 micromol/h/l, respectively. The average enzyme activities of ID2S, GALN, and ARSB in disease-affected individuals are 0.5, 0.3, and 0.3 micromol/h/l, respectively |
751576 |
| 3.1.6.13 | medicine |
characterization of three mucopolysaccharidosis II patients with multiple aberrant transcripts due to three different point mutations. Mutations lead to production of only abnormally spliced transcripts (c.418+1G>C) or to abnormally spliced transcripts in addition to correctly spliced transcripts bearing the respective missence mutation (c.419G>T, and c.245C>T) |
681503 |
| 3.1.6.13 | medicine |
cognitive involvement is indicative of more severe disease and lower life expectancy in patients with mucopolysaccharidosis type II caused by a deficiency of iduronate-2-sulfatase: median age at death is significantly lower in patients who died in or before 1985 compared with those who died after 1985. Data from patients who died after 1985 may serve as a control in analyses of the effects of enzyme replacement therapy with idursulfase on mortality in patients with mucopolysaccharidosis type II. Idursulfase does not cross the blood-brain barrier in therapeutic quantities |
709386 |
| 3.1.6.13 | medicine |
deficiency in Hunters syndrome, mucopolysaccharidosis II |
135573, 135574, 135577 |
