Advanced search
Search:  

1 - 2 of 2 results found for SUMF1. Did you mean: sum

  1. Clinical and mutational characterization of three patients with multiple sulfatase...

    Multiple sulfatase deficiency (MSD) is a rare autosomal recessive lysosomal storage disease characterized by impaired activity of all known sulfatases. The gene SUMF1, recently identified, encodes the enzyme responsible for post-translational

    http://iris.ucl.ac.uk/iris/publication/168699/2

  2. An improved AAV vector for neurological correction of the mouse model of...

    Patients with the lysosomal storage disease mucopolysaccharidosis IIIA (MPSIIIA) lack the lysosomal enzyme N-sulfoglucosamine sulfohydrolase (SGSH), one of the many enzymes involved in degradation of heparan sulphate. Build-up of undegraded heparan

    http://iris.ucl.ac.uk/iris/publication/1653723/1

  3. Page: 1