摘要：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.
关键词：MPS; Mucopolysaccharidosis; Morquio type A; Fluorometric enzyme assay
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