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Curr Protoc Hum Genet. 2012 Jan;Chapter 17:Unit17.10. doi: 10.1002/0471142905.hg1710s72.

Determination of sialylated and neutral oligosaccharides in urine by mass spectrometry.

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1
SA Pathology/Women's and Children's Hospital, North Adelaide, South Australia.

Abstract

This protocol describes a method to allow for the detection of specific oligosaccharide fragments in urine by tandem mass spectrometry. The detection of fragments with specific masses indicates the presence of one of a number of diseases where the deficiency of lysosomal enzymes involved in the degradation of the glyco- moieties of glycoproteins is present in the patient. This method describes the derivatization of oligosaccharides present in urine with phenyl-1-methylpyrazolone, which renders them hydrophobic, thus allowing desalting with Combi cleanup columns prior to injection. This method allows the detection of storage of oligosaccharides, which may indicate the presence of one of the infantile Pompe disease, α-mannosidosis, Gm1-gangliosidosis, Sandhoff disease, sialidosis, galactosialidosis, I-cell disease, and aspartylglucosaminuria.

PMID:
22241656
DOI:
10.1002/0471142905.hg1710s72
[Indexed for MEDLINE]
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