Associated Papers
SLC35A2-CDG: Novel variant and review.
Quelhas D et al.
Molecular Genetics and Metabolism Reports, 2021
A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach.
Dörre K et al.
Journal of Inherited Metabolic Disease, 2015
De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy.
Kodera H et al.
Human Mutation, 2013
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