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Clinical Chemistry 27: 243-245, 1981;
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Clinical Chemistry, Vol 27, 243-245, Copyright © 1981 by American Association for Clinical Chemistry

Simple laboratory determination of excess oligosacchariduria

AC Sewell

I describe a simple set of procedures for the screening of patients' urine to detect oligosaccharide-storage diseases. Urines from patients with mucolipidosis I, mannosidosis, fucosidosis, aspartylglycosaminuria, and type VI glycogen-storage disease can be distinguished by thin-layer chromatography. Patients with beta- galactosidase deficiency can be detected by use of a combination of ion- exchange and thin-layer chromatography. Excess sialyloligosaccharide excretion is detected by using gel filtration and a quantitative assay for neuraminic acid. The advantages of the system are detection of virtually all known disorders in which oligosaccharides are over- excreted, production of characteristic patterns, and small sample requirement.




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Copyright © 1981 by the American Association for Clinical Chemistry.