D-Mannose As a New Therapy for Fucokinase Deficiency-Related Congenital Disorder of Glycosylation (FCSK-CDG)
Molecular Genetics and Metabolism(2024)
关键词
Fucose kinase,Congenital disorders of glycosylation,CDG,Mannose,Fucose,Glycoproteomics,Aleuria aurantia,Chronic diarrhea,Developmental delay,Exome sequencing
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