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Article

N-acetylgalactosamine-4-sulfatase: identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VI.

Biochimica et biophysica acta - 12 Dec 1995

Simonaro C M, Schuchman E H

Abstract excerpt

Mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome) is the lysosomal storage disorder resulting from the deficient activity of N-acetylgalactosamine-4-sulfatase (arylsulfatase B; ASB). MPS VI has been described in man, cats and rats, and several mutations in the ASB gene have been identified in human patients and the animal models. Notably, ASB belongs to a family of sulfatases which are highly...

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PMID: 8541342
DOI: 10.1016/0925-4439(95)00070-4

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