Diagnosticering og behandling af multipel sulfatase-defekt og andet ved anvendelse af et formylglycin-dannende enzym (FGE).

摘要

This invention relates to methods and compositions for the diagnosis and treatment of Multiple Sulfatase Deficiency (MSD) as well as other sulfatase deficiencies. More specifically, the invention relates to isolated molecules that modulate post-translational modifications on sulfatases. Such modifications are essential for proper sulfatase function.