Associated Papers
Insights into ALG3-CDG: A case study combining glycan profiling and genetic analysis.
Kodríková R et al.
Molecular Genetics and Metabolism Reports, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
41271695 (PubMed )
Supplement: 41467_2025_65190_MOESM6_ESM.xlsx › snv-indel-plp-summary
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
39974082 (PubMed )
Supplement: media-5.xlsx › TableS4A-snv-indel-plp-summary
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
ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings.
Farolfi M et al.
Bmc Ophthalmology, 2021
Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG.
Paketci C et al.
Brain & Development, 2020
Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus.
Himmelreich N et al.
Human Mutation, 2019
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S et al.
Cold Spring Harbor Molecular Case Studies, 2018
30487145 (PubMed )
Supplement: supp_mcs.a003178_Supplemental_File_1.xlsx › Sheet1
Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II.
Al Teneiji A et al.
Molecular Genetics and Metabolism, 2017
Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.
Barba C et al.
Developmental Medicine and Child Neurology, 2016
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins.
Denecke J et al.
Pediatric Research, 2005
Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia.
Sun L et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
ALG3-CDG (CDG-Id): clinical, biochemical and molecular findings in two siblings.
Riess S et al.
Molecular Genetics and Metabolism, 0
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