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Diagnosis of carbohydrate-deficient glycoprotein syndrome by matrix-assisted laser desorption time-of-flight mass spectrometry.

Abstract
Serum transferrin from patients with carbohydrate-deficient glycoprotein syndrome was analysed by matrix-assisted laser desorption time-of-flight mass spectrometry (MALDI-TOF mass spectrometry). Abnormal molecular species with a defect of one or two oligosaccharide chains of 2200 Da were clearly identified. MALDI-TOF mass spectrometry will serve to diagnose this aetiologically unknown, metabolic disease.
AuthorsY Wada, J Gu, N Okamoto, K Inui
JournalBiological mass spectrometry (Biol Mass Spectrom) Vol. 23 Issue 2 Pg. 108-9 (Feb 1994) ISSN: 1052-9306 [Print] England
PMID8123689 (Publication Type: Journal Article)
Chemical References
  • Glycoproteins
  • Sialic Acids
  • Transferrin
Topics
  • Carbohydrate Metabolism, Inborn Errors (diagnosis)
  • Glycoproteins (blood, chemistry)
  • Humans
  • Mass Spectrometry (methods)
  • Sialic Acids (analysis, blood)
  • Syndrome
  • Transferrin (chemistry)

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