Article
Transferrin variants: pitfalls in the diagnostics of Congenital disorders of glycosylation.
Clinical biochemistry - 1 Jan 2015
Zühlsdorf Andrea, Park Julien Heinrich, Wada Yoshinao, Rust Stephan, Reunert Janine, DuChesne Ingrid, Grüneberg Marianne, Marquardt Thorsten
Abstract excerpt
OBJECTIVES: Transferrin variants can hinder the diagnostic process in cases of suspected Congenital disorders of glycosylation which affect N-Glycosylation. In addition they can impair the use of Carbohydrate deficient Transferrin as a biomarker for chronic alcohol abuse, in which Asialo-Transferrin and Disialo-Transferrin are increased. We present a novel transferrin variant as well as an overview of transferrin...
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