How to find and diagnose a CDG due to defective N-glycosylation

doi:10.1007/s10545-011-9370-0

Editorial

. 2011 Aug;34(4):849-52.

doi: 10.1007/s10545-011-9370-0. Epub 2011 Jul 8.

How to find and diagnose a CDG due to defective N-glycosylation

Dirk J Lefeber, Eva Morava, Jaak Jaeken

PMID: 21739167
PMCID: PMC3137781
DOI: 10.1007/s10545-011-9370-0

Editorial

How to find and diagnose a CDG due to defective N-glycosylation

Dirk J Lefeber et al. J Inherit Metab Dis. 2011 Aug.

. 2011 Aug;34(4):849-52.

doi: 10.1007/s10545-011-9370-0. Epub 2011 Jul 8.

Authors

Dirk J Lefeber, Eva Morava, Jaak Jaeken

PMID: 21739167
PMCID: PMC3137781
DOI: 10.1007/s10545-011-9370-0

No abstract available

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Figures

**Fig. 1**
Isofocusing techniques in the screening for CDG. a. Isofocusing of plasma transferrin for detection of N-glycosylation defects. Indicated is the most abundant glycan isoform of transferrin with two bi-antennary N-glycans, corresponding with tetrasialotransferrin. Lane 1: control, lane 2: CDG-I profile, lane 3: asialo type 2 profile, lane 4: disialo type 2 profile. b. Isofocusing of plasma apolipoprotein C3 for detection of mucin type O-glycosylation defects. Lane 1: control, lane 2: ApoC3-0 profile, lane 3: ApoC3-1 profile

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References

1. Babovic-Vuksanovic D, O'Brien JF. Laboratory diagnosis of congenital disorders of glycosylation type I by analysis of transferrin glycoforms. Mol Diagn Ther. 2007;11:303–311. - PubMed
1. Carchon HA, Chevigné R, Falmagne JB, Jaeken J. Diagnosis of congenital disorders of glycosylation by capillary zone electrophoresis of serum transferrin. Clin Chem. 2004;50:101–111. doi: 10.1373/clinchem.2003.021568. - DOI - PubMed
1. de Lonlay P, Seta N. The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib. Biochim Biophys Acta. 2009;1792:841–843. - PubMed
1. Guillard M, Morava E, van Delft FL, Hague R, Korner C, Adamowicz M, Wevers RA, Lefeber DJ. Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II. Clin Chem. 2011;57:593–602. doi: 10.1373/clinchem.2010.153635. - DOI - PubMed
1. Helander A, Eriksson G, Stibler H, Jeppsson JO. Interference of transferrin isoform types with carbohydrate-deficient transferrin quantification in the identification of alcohol abuse. Clin Chem. 2001;47:1225–1233. - PubMed

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[1] Babovic-Vuksanovic D, O'Brien JF. Laboratory diagnosis of congenital disorders of glycosylation type I by analysis of transferrin glycoforms. Mol Diagn Ther. 2007;11:303–311. - PubMed

[2] Babovic-Vuksanovic D, O'Brien JF. Laboratory diagnosis of congenital disorders of glycosylation type I by analysis of transferrin glycoforms. Mol Diagn Ther. 2007;11:303–311. - PubMed

[3] Carchon HA, Chevigné R, Falmagne JB, Jaeken J. Diagnosis of congenital disorders of glycosylation by capillary zone electrophoresis of serum transferrin. Clin Chem. 2004;50:101–111. doi: 10.1373/clinchem.2003.021568. - DOI - PubMed

[4] Carchon HA, Chevigné R, Falmagne JB, Jaeken J. Diagnosis of congenital disorders of glycosylation by capillary zone electrophoresis of serum transferrin. Clin Chem. 2004;50:101–111. doi: 10.1373/clinchem.2003.021568. - DOI - PubMed

[5] de Lonlay P, Seta N. The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib. Biochim Biophys Acta. 2009;1792:841–843. - PubMed

[6] de Lonlay P, Seta N. The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib. Biochim Biophys Acta. 2009;1792:841–843. - PubMed

[7] Guillard M, Morava E, van Delft FL, Hague R, Korner C, Adamowicz M, Wevers RA, Lefeber DJ. Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II. Clin Chem. 2011;57:593–602. doi: 10.1373/clinchem.2010.153635. - DOI - PubMed

[8] Guillard M, Morava E, van Delft FL, Hague R, Korner C, Adamowicz M, Wevers RA, Lefeber DJ. Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II. Clin Chem. 2011;57:593–602. doi: 10.1373/clinchem.2010.153635. - DOI - PubMed

[9] Helander A, Eriksson G, Stibler H, Jeppsson JO. Interference of transferrin isoform types with carbohydrate-deficient transferrin quantification in the identification of alcohol abuse. Clin Chem. 2001;47:1225–1233. - PubMed

[10] Helander A, Eriksson G, Stibler H, Jeppsson JO. Interference of transferrin isoform types with carbohydrate-deficient transferrin quantification in the identification of alcohol abuse. Clin Chem. 2001;47:1225–1233. - PubMed

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How to find and diagnose a CDG due to defective N-glycosylation

How to find and diagnose a CDG due to defective N-glycosylation

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