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  • Title: The simple detection of neuraminic acid-containing urinary oligosaccharides in patients with glycoprotein storage diseases.
    Author: Sewell AC.
    Journal: J Inherit Metab Dis; 1983; 6(4):153-7. PubMed ID: 6422155.
    Abstract:
    Urine samples from patients with different types of glycoprotein storage disease were chromatographed by gel filtration and the fractions analysed for sialic acid. Patients with mucolipidoses I and II excreted the largest amounts of bound sialic acid. One patient with GM1 gangliosidosis showed an abnormal level of sialyloligosaccharide excretion. Other patients showed normal results. With the present method mucolipidoses I and II, together with GM1 gangliosidosis, are readily distinguished from other possible oligosaccharidurias.
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