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Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy

✍ Scribed by Litsa Karageorgos; Doug A. Brooks; Paul Harmatz; David Ketteridge; Anthony Pollard; Elizabeth L. Melville; Emma Parkinson-Lawrence; Peter R. Clements; John J. Hopwood

Book ID
116987934
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
379 KB
Volume
90
Category
Article
ISSN
1096-7192

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Mutational analysis of mucopolysaccharid
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## Communicated by Andreas Gal Mucopolysaccharidosis type VI (MPS VI), or Maroteaux-Lamy syndrome, is a lysosomal storage disorder caused by a deficiency of N-acetylgalactosamine-4-sulfatase (ARSB). Seven MPS VI patients were chosen for the initial clinical trial of enzyme replacement therapy. Dir

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## Communicated by William Sly Mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome) is a lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-4-sulfatase (arylsulfatase B, ARSB) gene. ARSB is a lysosomal enzyme involved in the degradation of the glycosaminoglycans