Associated Papers
Specific Detection of Sialyltransferase ST3GAL3 Towards Lipid Acceptors by Liquid Chromatography Coupled with Tandem Mass Spectrometry Indicates Total Loss of Enzyme Activity in ST3GAL3 Pathogenic Variants.
Penati S et al.
Biomedicines, 2026
Clinical report and genetic analysis of a Chinese patient with developmental and epileptic encephalopathy associated with novel biallelic variants in the ST3GAL3 gene.
Hu J et al.
Molecular Genetics & Genomic Medicine, 2024
The epilepsy phenotype of ST3GAL3-related developmental and epileptic encephalopathy.
Whitney R et al.
Epilepsia Open, 2023
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