天冬氨酰葡糖胺尿症的液相色谱检测
Liquid-chromatographic detection of aspartylglycosaminuria.
作者信息
Mononen T, Parviainen M, Penttilä I, Mononen I
出版信息
Clin Chem. 1986 Mar;32(3):501-2.
PMID:3948393
Abstract
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).
摘要
我们描述了一种用于检测溶酶体贮积病天冬氨酰葡糖胺尿症的特定、简单的液相色谱方法。该方法基于对受影响个体尿液中主要贮积化合物2-乙酰氨基-1-L-β-天冬氨酰胺基-1,2-二脱氧-β-D-葡萄糖的鉴定和定量。样品制备和色谱分析需要30分钟。该方法的日内变异小于4.4%，日间变异小于11.7%（每组n = 10）。
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