Original paper
A spoonful of L‐fucose—an efficient therapy for GFUS‐CDG, a new glycosylation disorder
Abstract
Congenital disorders of glycosylation are a genetically and phenotypically heterogeneous family of diseases affecting the co- and posttranslational modification of proteins. Using exome sequencing, we detected biallelic variants in GFUS (NM_003313.4) c.[632G>A];[659C>T] (p.[Gly211Glu];[Ser220Leu]) in a patient presenting with global developmental delay, mild coarse facial features and faltering growth. GFUS encodes GDP-L-fucose synthase, the...
Paper Details
Title
A spoonful of L‐fucose—an efficient therapy for GFUS‐CDG, a new glycosylation disorder
Published Date
Sep 1, 2021
Journal
Volume
13
Issue
9
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Notes
History