文章基本信息

标题：Development of a fluorometric microtiter plate based enzyme assay for {MPS} {IVA} (Morquio type A) using dried blood spots
作者：Anirudh J. Ullal ; David S. Millington ; Deeksha S. Bali 等
期刊名称：Molecular Genetics and Metabolism Reports
印刷版ISSN：2214-4269
出版年度：2014
卷号：1
页码：461-464
DOI：10.1016/j.ymgmr.2014.10.004
出版社：Elsevier B.V.
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