ais, fucosidosis, sialidosis, and aspartyglycosamunuria. 1n Stanbury. JB, WyngaardenJB,. Fredrickson D8, GoldsteinJL, Brown MS, ode. The metabolic basis of ...
CLIN.CHEM.32/3, 501-502 (1986)
Liquid-Chromatographic Detectionof Aspartyiglycosaminuria Tarja Mononen, M. Parvialnen, I. Penttli#{225}, and L Mononen 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
