The utility of two dimensional electrophoresis in diagnosis of mucopolysaccharidosis disorders
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- 作者：Srilatha Kadali ; Rama Devi Patlolla ; Anusha Kolusu ; Krishna Teja Undamatla ; Maheshwar Reddy Gummadi ; Jayanthi Undamatla ; jayanthi@sandor.co.in" class="auth_mail" title="E-mail the corresponding author
- 关键词：Mucopolysaccharidoses ; Lysosomal storage disorders ; Glycosaminoglycans ; Two dimensional electrophoresis
- 刊名：Clinica Chimica Acta
- 出版年：2016
- 出版时间：1 June 2016
- 年：2016
- 卷：457
- 期：Complete
- 页码：36-40
- 全文大小：429 K
文摘
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Quantitative and qualitative analysis of urinary GAGs, followed by enzymatic confirmation avoids sequential testing of all MPS types.
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Thus this diagnostic approach would be less time consuming and cost effective for diagnosing most types of MPS disorders.
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Amount of urinary GAGs directly correlates with the age of onset and the severity of the disease.