一种使用干血斑的亨特综合征新型荧光酶分析法。
A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots.
机构信息
Division of Medical Genetics, Department of Pediatrics, Duke Medicine, Durham, NC 27713, USA.
出版信息
Mol Genet Metab. 2012 Mar;105(3):519-21. doi: 10.1016/j.ymgme.2011.12.011. Epub 2011 Dec 21.
Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is a lysosomal storage disease caused by deficiency of iduronate-2-sulfatase (IDS). A convenient single-step fluorometric microplate enzyme assay has been developed and validated for clinical diagnosis of MPS II using dried blood spots (DBS). The assay compared well with a recently reported digital microfluidic method, from which it was adapted. Results show that this DBS assay is robust and reproducible using both technologies.
黏多糖贮积症 II 型（MPS II）或亨特综合征是一种溶酶体贮积病，由艾度糖-2-硫酸酯酶（IDS）缺乏引起。已经开发并验证了一种方便的一步荧光微孔板酶分析法，用于使用干血斑（DBS）进行 MPS II 的临床诊断。该测定法与最近报道的数字微流控方法相比，该方法是从该方法改编而来的。结果表明，这两种技术都使 DBS 测定法具有稳健性和可重复性。
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