Clinical and biochemical characterization of a patient with congenital disorder of glycosylation (CDG) IIx.
case_report · Level V
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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.
Medical subject headings
- Chromatography, High Pressure Liquid
- Congenital Disorders of Glycosylation
- Glycoproteins
- Polysaccharides
- Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization