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Development of a Fluorometric Microtiter Plate Based Enzyme Assay for MPS IVA (Morquio Type A) Using Dried Blood Spots

Anirudh J Ullal, David S Millington, Deeksha S Bali

Mol Genet Metab Rep. 2014 Oct 22;1:461-464.

PMID: 27896123

Abstract:

Mucopolysaccharidosis type IVA or Morquio type-A disease is a hereditary lysosomal storage disorder caused by deficient activity of the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS). The disease is caused by lysosomal accumulation of unprocessed glycosaminoglycans (GAGs) that manifests with severe to mild skeletal and cardiopulmonary abnormalities. We have developed a modified microtiter plate-based enzyme activity assay using dried blood spots and a fluorescent substrate for measuring specific GALNS activity to identify patients with MPS IVA.

Chemicals Related in the Paper:

Catalog Number Product Name Structure CAS Number Price
AP5980336 4-Methylumbelliferone sodium salt 4-Methylumbelliferone sodium salt 5980-33-6 Price
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