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  • Title: Liquid-chromatographic detection of aspartylglycosaminuria.
    Author: Mononen T, Parviainen M, Penttilä I, Mononen I.
    Journal: Clin Chem; 1986 Mar; 32(3):501-2. PubMed ID: 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).
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