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    • Diagnostic and treatment strategies in mucopolysaccharidosis VI 

      Vairo, Filippo Pinto e; Federhen, Andressa; Baldo, Guilherme; Burin, Maira Graeff; Riegel, Mariluce; Leistner-Segal, Sandra; Giugliani, Roberto (2015) [Journal article]
      Mucopolysaccharidosis VI (MPS VI) is a very rare autosomal recessive disorder caused by mutations in the ARSB gene, which lead to deficient activity of the lysosomal enzyme ASB. This enzyme is important for the breakdown ...