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- W2005361276 abstract "Congenital disorders of glycosylation (CDG) are inherited diseases that can affect not only the N-glycan (e.g. CDG type I and II) but also the O-glycan biosynthesis pathway. In the absence of specific clinical symptoms, there is a need for a reliable biological screening of these two groups of CDG. Using a few microlitres of human serum, 2-DE and immunoblotting were applied to the separation and simultaneous detection of the isoforms of the O-glycosylated protein apolipoprotein C-III (apoC-III) and of four N-glycosylated proteins, namely alpha-antitrypsin, alpha-1 acid glycoprotein, haptoglobin and transferrin. For the study of O-glycosylation, this technique allowed the reliable separation of the three fractions of apoC-III and the determination of normal percentage values in an adult population. Concerning N-glycosylation, the study of serum samples from patients with CDG type Ia revealed marked abnormalities systematically affecting the four 2-DE separated N-linked glycoproteins. 2-DE coupled to immunoblotting using a mixture of specific antibodies could be easily and reliably employed for the combined screening of both N- and O-glycosylation disorders in humans." @default.
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- W2005361276 date "2007-03-01" @default.
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- W2005361276 title "Two-dimensional gel electrophoresis of apolipoprotein C-III and other serum glycoproteins for the combined screening of human congenital disorders ofO- andN-glycosylation" @default.
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- W2005361276 doi "https://doi.org/10.1002/prca.200600777" @default.
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