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Article

The novel transferrin E592A variant impairs the diagnostics of congenital disorders of glycosylation.

Clinica chimica acta; international journal of clinical chemistry - 25 Sept 2014

Park Julien H, Zühlsdorf Andrea, Wada Yoshinao, Roll Claudia, Rust Stephan, Du Chesne Ingrid, Grüneberg Marianne, Reunert Janine, Marquardt Thorsten

Abstract excerpt

BACKGROUND: The analysis of serum transferrin either by high-performance liquid chromatography (HPLC) or isoelectric focusing (IEF) is the standard diagnostic procedure in patients with the suspicion of a congenital disorder of glycosylation (CDG). Carbohydrate-deficient transferrin (CDT) is also analysed in monitoring programmes in cases of alcohol abuse. We report a novel transferrin variant that impairs the...

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PMID: 24875750
DOI: 10.1016/j.cca.2014.05.011

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