Clinical and mutational characterization of three patients with multiple sulfatase deficiency: Report of a new splicing mutation

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 modification of a cysteine residue, which is essential fo...

Ausführliche Beschreibung