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D-Mannose As a New Therapy for Fucokinase Deficiency-Related Congenital Disorder of Glycosylation (FCSK-CDG)

Rodrigo Tzovenos Starosta,Angela J. Lee, Elizabeth R. Toolan,Miao He,Parith Wongkittichote, Earnest James Paul Daniel,Silvia Radenkovic, Rohit Budhraja, Akhilesh Pandey, Jaiprakash Sharma,Eva Morava,Hoanh Nguyen,Patricia I. Dickson

MOLECULAR GENETICS AND METABOLISM（2024）

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Key words
Fucose kinase,Congenital disorders of glycosylation,CDG,Mannose,Fucose,Glycoproteomics,Aleuria aurantia,Chronic diarrhea,Developmental delay,Exome sequencing
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