Associated Papers
SLC35A2-Related Brain Disorders: Genetics, Pathophysiology, and Therapeutic Insights.
Risso B et al.
International Journal of Molecular Sciences, 2025
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing.
Hou H et al.
Npj Genomic Medicine, 2025
Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation.
Jáñez Pedrayes A et al.
Cellular and Molecular Life Sciences : Cmls, 2025
CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression.
Cao X et al.
Journal of Medical Genetics, 2021
SLC35A2-CDG: Novel variant and review.
Quelhas D et al.
Molecular Genetics and Metabolism Reports, 2021
Four New Cases of SLC35A2-CDG With Novel Mutations and Clinical Features.
Abuduxikuer K et al.
Frontiers in Genetics, 2021
Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG.
Witters P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Ng BG et al.
Human Mutation, 2019
Functional analyses of the UDP-galactose transporter SLC35A2 using the binding of bacterial Shiga toxins as a novel activity assay.
Li D et al.
Glycobiology, 2019
Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.
Vals MA et al.
Journal of Inherited Metabolic Disease, 2019
SLC35A2-related congenital disorder of glycosylation: Defining the phenotype.
Yates TM et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018
Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report.
Westenfield K et al.
Bmc Medical Genetics, 2018
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Lionel AC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy.
Kimizu T et al.
Brain & Development, 2017
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
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.
Ng BG et al.
American Journal of Human Genetics, 2013