Mucopolysaccharidosis IVA/VII screening and treatment method
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United States of America Patent
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May 29, 2018
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Apr 30, 2015
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Apr 30, 2014
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Abstract
Provided is a rapid screening method for detecting mucopolysaccharidosis IVA and mucopolysaccharidosis VII. Biological samples containing glycosaminoglycans are enzymatically digested to converts chondroitin 6-sulfate into ΔDi-6S. ΔDi-6S is assayed by liquid chromatography-tandem mass spectroscopy analysis. Elevated ΔDi-6S, and thus elevated chondroitin 6-sulfate present in the sample, indicates a likelihood that the test subject is afflicted with mucopolysaccharidosis IVA or mucopolysaccharidosis VII.
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