Clinical Chemistry
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Clinical Chemistry 32: 501-502, 1986;
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Clinical Chemistry, Vol 32, 501-502, Copyright © 1986 by American Association for Clinical Chemistry

Liquid-chromatographic detection of aspartylglycosaminuria

T Mononen, M Parviainen, I Penttila and I Mononen

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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Copyright © 1986 by the American Association for Clinical Chemistry.