Apolipoprotein C-III O-glycoform profiling of 500 serum samples by matrix-assisted laser desorption/ionization mass spectrometry for diagnosis of congenital disorders of glycosylation.

Abstract excerpt

Congenital disorders of glycosylation (CDG) are caused by defects in various genes governing glycoconjugate biosynthesis. Several responsible genes have been identified in the protein N-glycosylation process. Analyses of mucin-type core-1 O-glycoform of apolipoprotein C-III (apoCIII) have recently revealed combined N- and O-glycosylation defects. We applied matrix-assisted laser desorption/ionization mass...

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