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J Pediatr. 2005 Dec;147(6):851-3.

Clinical and biochemical characterization of a patient with congenital disorder of glycosylation (CDG) IIx.

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  • 1Burnham Institute, Program for Glycobiology and Carbohydrate Chemistry, La Jolla, Calif 92037, USA.

Abstract

We describe a case of congenital disorder of glycosylation with chronic diarrhea, progressive liver cirrhosis, and recurrent infections. Transferrin analysis showed only hyposialylation, but analysis of total serum N-glycans indicated loss of additional sugars, arguing that the latter generates a more informative picture to search for the primary defect.

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PMID:
16356446
[PubMed - indexed for MEDLINE]
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