How to find and diagnose a CDG due to defective N-glycosylation
- PMID: 21739167
- PMCID: PMC3137781
- DOI: 10.1007/s10545-011-9370-0
How to find and diagnose a CDG due to defective N-glycosylation
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References
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- 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
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- 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
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- 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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