Associated Papers
Deep exome sequencing identifies enrichment of deleterious mosaic variants in neurodevelopmental disorder genes and mitochondrial tRNA regions in bipolar disorder.
Nishioka M et al.
Molecular Psychiatry, 2023
Prevalence of Congenital Disorders of Glycosylation in Childhood Epilepsy and Effects of Anti-Epileptic Drugs on the Transferrin Isoelectric Focusing Test.
Silver G et al.
Genes, 2021
34440401 (PubMed )
Supplement: genes-12-01227-s001.zip › genes-1234092-supplementary.pdf
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
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
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
INS-gene mutations: from genetics and beta cell biology to clinical disease.
Liu M et al.
Molecular Aspects of Medicine, 2015
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.
Ng BG et al.
American Journal of Human Genetics, 2013
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