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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

Simple laboratory determination of excess oligosacchariduria.

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.[1]

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