How to find and diagnose a CDG due to defective N-glycosylation
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-011-9370-0
Reference15 articles.
1. Babovic-Vuksanovic D, O'Brien JF (2007) Laboratory diagnosis of congenital disorders of glycosylation type I by analysis of transferrin glycoforms. Mol Diagn Ther 11:303–311
2. Carchon HA, Chevigné R, Falmagne JB, Jaeken J (2004) Diagnosis of congenital disorders of glycosylation by capillary zone electrophoresis of serum transferrin. Clin Chem 50:101–111
3. de Lonlay P, Seta N (2009) The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib. Biochim Biophys Acta 1792:841–843
4. Guillard M, Morava E, van Delft FL, Hague R, Korner C, Adamowicz M, Wevers RA, Lefeber DJ (2011) Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II. Clin Chem 57:593–602
5. Helander A, Eriksson G, Stibler H, Jeppsson JO (2001) Interference of transferrin isoform types with carbohydrate-deficient transferrin quantification in the identification of alcohol abuse. Clin Chem 47:1225–1233
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