Associated Papers
A Novel Missense Variant in Ultrarare SLC35A1-CDG Alters Cellular Glycosylation, Lipid, and Energy Metabolism Without Affecting CDG Serum Markers.
Falkenstein K et al.
Human Mutation, 2025
Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1.
Ng BG et al.
American Journal of Medical Genetics. Part A, 2017
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