Article
Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease.
Biotechnology and applied biochemistry - 1 Mar 2008
Di Natale Paola, Villani Guglielmo R D, Parini Rossella, Scarpa Maurizio, Parenti Giancarlo, Pontarelli Gianfranco, Grosso Michela, Sersale Giovanna, Tomanin Rosella, Sibilio Michelina, Barone Rita, Fiumara Agata
Abstract excerpt
MPS VI (mucopolysaccharidosis type VI) is a lysosomal storage disease in which deficient activity of the enzyme N-acetylgalactosamine 4-sulfatase [ASB (arylsulfatase B)] impairs the stepwise degradation of the GAG (glycosaminoglycan) dermatan sulfate. Clinical studies of ERT (enzyme replacement therapy) by using rhASB (recombinant human ASB) have been reported with promising results. The release of GAG into the...
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