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Last Updated: 10/31/2025

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Found 14 publications

Insights into ALG3-CDG: A case study combining glycan profiling and genetic analysis.

Insights into ALG3-CDG: A case study combining glycan profiling and genetic analysis.

Journal: Molecular genetics and metabolism reports
Published: February 21, 2025

Deficient glycan extension and endoplasmic reticulum stresses in ALG3-CDG.

Deficient glycan extension and endoplasmic reticulum stresses in ALG3-CDG.

Journal: Journal of inherited metabolic disease
Published: September 20, 2023

Fetal glycosylation defect due to ALG3 and COG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype.

Fetal glycosylation defect due to ALG3 and COG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype.

Journal: Molecular genetics and metabolism
Published: June 08, 2020

ALG3-CDG: lethal phenotype and novel variants in Chinese siblings.

ALG3-CDG: lethal phenotype and novel variants in Chinese siblings.

Journal: Journal of human genetics
Published: February 13, 2020

Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG.

Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG.

Journal: Brain & development
Published: November 27, 2019

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.

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.

Journal: Human mutation
Published: January 22, 2019

Molecular partners of hNOT/ALG3, the human counterpart of the Drosophila NOT and yeast ALG3 gene, suggest its involvement in distinct cellular processes relevant to congenital disorders of glycosylation, cancer, neurodegeneration and a variety of further pathologies.

Molecular partners of hNOT/ALG3, the human counterpart of the Drosophila NOT and yeast ALG3 gene, suggest its involvement in distinct cellular processes relevant to congenital disorders of glycosylation, cancer, neurodegeneration and a variety of further pathologies.

Journal: Human molecular genetics
Published: February 20, 2018

Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.

Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.

Journal: Developmental medicine and child neurology
Published: March 22, 2016

ALG3-CDG: Report of two siblings with antenatal features carrying homozygous p.Gly96Arg mutation.

ALG3-CDG: Report of two siblings with antenatal features carrying homozygous p.Gly96Arg mutation.

Journal: American journal of medical genetics. Part A
Published: December 19, 2014

Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.

Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.

Journal: Human mutation
Published: October 29, 2009

Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient.

Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient.

Journal: Journal of inherited metabolic disease
Published: May 20, 2008

CDG-Id in two siblings with partially different phenotypes.

CDG-Id in two siblings with partially different phenotypes.

Journal: American journal of medical genetics. Part A
Published: June 07, 2007
Showing 1-12 of 14

Last Updated: 10/31/2025