EC Number   |
Application |
Reference |
|---|
   3.1.6.8 | medicine |
- |
135695 |
| 3.1.6.8 | medicine |
arylsulfatase E defiecency in chondrodysplasia punctata |
135696 |
| 3.1.6.8 | medicine |
assay of activity in leukocytes as a non-invasive diagnostic tool in patients with benign and malignant breast disease |
650760 |
| 3.1.6.8 | medicine |
availability of AS-A on the sperm surface is important for the dispersion of cumulus layers of cumulus oocyte complexes |
681035 |
| 3.1.6.8 | medicine |
characterization of pathogenic variants C490R, P428L, N284K, P428L, H425R, Y225C and P428L, which were found when sequencing a cohort of 31 German metachromatic leukodystrophy families. Upon expression in immortalized, human multipotent mesenchymal stromal cells prepared from a patient deficient in ARSA activity, the seven mutants show ARSA activity of less than 10% when compared with wild type |
750722 |
| 3.1.6.8 | medicine |
deficiency in metachromatic leukodystrophy, a sphingolipid storage disorder |
135676, 135678, 135695 |
| 3.1.6.8 | medicine |
enzyme effective in dispersing the cumulus cells of rabbit ova |
135683 |
| 3.1.6.8 | medicine |
enzyme replacement therapy is a therapeutic option for metachromatic leukodystrophy, caused by enzyme-deficiency, and other lysosomal disorders. This therapy depends on N-linked oligosaccharide-mediated delivery of intravenously injected recombinant enzyme to the lysosomes of patient cells |
708615 |
| 3.1.6.8 | medicine |
metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of enzyme |
653357 |
| 3.1.6.8 | medicine |
metachromatic leukodystrophy is caused by deficient activity of arylsulfatase A |
691881 |
