Article
Genetic studies in a cluster of mucopolysaccharidosis type VI patients in Northeast Brazil.
Molecular genetics and metabolism - 1 Dec 2011
Costa-Motta Fabiana Moura, Acosta Angelina Xavier, Abé-Sandes Kiyoko, Bender Fernanda, Schwartz Ida Vanessa D, Giugliani Roberto, Leistner-Segal Sandra
Abstract excerpt
Mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome) is a lysosomal storage disease caused by deficiency of arylsulphatase B. The incidence of MPS VI is very low, usually less than 1 case for every 1,000,000 newborns. In Northeast Brazil we identified in the county of Monte Santo (52,360 inhabitants) thirteen patients with MPS VI. The aim of this work was to identify the mutation(s) present in these...
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