Browsing Health Sciences by Subject "N-acetilgalactosamina-4-sulfatase"
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Diagnostic and treatment strategies in mucopolysaccharidosis VI
(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 ...