Liquid - ChromatographicDetectionof Aspartyiglycosaminuria
نویسندگان
چکیده
We describea specific,simpletiquid-chromatographic method for detecting the lysosomal storage disease aspartylglycosaminuna. The method is based on identification and quantificationof the major storage compound 2acetamido-1-L--aspartamido-1 ,2-dldeoxy--D-glucose in the urine of affected individuals.Sample preparation and chromatographicanalysisrequires30 mm. Within-dayvariation of the method was <4.4%, between-day variation <11.7% (n = 10 each).
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تاریخ انتشار 2004