Liquid-chromatographic detection of aspartylglycosaminuria.
Liquid-chromatographic detection of aspartylglycosaminuria.
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天冬氨酰糖胺尿的液相色谱检测。
DOI：
10.1093/clinchem/32.3.501
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发表时间：
1986
影响因子：
9.3
通讯作者：
I. Mononen
中科院分区：
文献类型：
--
作者：
T. Mononen;M. Parviainen;I. Penttilä;I. Mononen
我们描述了一个具体的，简单的液相色谱法检测溶酶体贮积病尿苷。该方法基于受影响个体尿液中主要储存化合物2-乙酰氨基-1-L-β-乙酰氨基-1，2-双脱氧-β-D-葡萄糖的鉴别和定量。样品制备和色谱分析需要30 min。该方法的日内变异小于4.4%，日间变异小于11.7%（n = 10）。
We describe a specific, simple liquid-chromatographic method for detecting the lysosomal storage disease aspartylglycosaminuria. The method is based on identification and quantification of the major storage compound 2-acetamido-1-L-beta-aspartamido-1, 2-dideoxy-beta-D-glucose in the urine of affected individuals. Sample preparation and chromatographic analysis requires 30 min. Within-day variation of the method was less than 4.4%, between-day variation less than 11.7% (n = 10 each).