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Congenital disorders of glycosylation with defective fucosylation

13 Aug 2021

Abstract excerpt

Fucosylation is essential for intercellular and intracellular recognition, cell-cell interaction, fertilization, and inflammatory processes. Only five types of congenital disorders of glycosylation (CDG) related to an impaired fucosylation have been described to date: FUT8-CDG, FCSK-CDG, POFUT1-CDG SLC35C1-CDG, and the only recently described GFUS-CDG. This review summarizes the clinical findings of all hitherto...

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PMID: 34389986
DOI: 10.1002/jimd.12426

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