Associated Papers
SLC35A2-Related Brain Disorders: Genetics, Pathophysiology, and Therapeutic Insights.
Risso B et al.
International Journal of Molecular Sciences, 2025
41373710 (PubMed )
Supplement: ijms-26-11560-s001.zip › ijms-4001327-supplementary.xlsx › Foglio1
A systematic review of hereditary neurological disorders diagnosed by whole exome sequencing in Pakistani population: updates from 2014 to November 2024.
Ahmad R et al.
Neurogenetics, 2025
A three-pocket model for substrate coordination and selectivity by the nucleotide sugar transporters SLC35A1 and SLC35A2.
Li D et al.
The Journal of Biological Chemistry, 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
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
Select a paper to view details