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 wa...
