ALG1-CDG Latest Advances

Resistant Epilepsy and Developmental Delay in a Syndromic Infant: A Case of Congenital Disorder of Glycosylation Type Ik From India.

Journal: Cureus

Published: April 28, 2026

Prokaryotic expression of human Alg1 protein and analysis of the transmembrane domain properties

Journal: Sheng wu gong cheng xue bao = Chinese journal of biotechnology

Published: May 06, 2025

Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients.

Journal: Orphanet journal of rare diseases

Published: January 10, 2025

Targeted Proteomics Reveals Quantitative Differences in Low-Abundance Glycosyltransferases of Patients with Congenital Disorders of Glycosylation.

Journal: International journal of molecular sciences

Published: December 23, 2023

Normal transferrin glycosylation does not rule out severe ALG1 deficiency.

Journal: JIMD reports

Published: October 29, 2023

Corrigendum: ALG1-CDG Caused by Non-Functional Alternative Splicing Involving a Novel Pathogenic Complex Allele.

Journal: Frontiers in genetics

Published: September 15, 2021

ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele.

Journal: Frontiers in genetics

Published: July 21, 2021

ALG1-CDG: A Patient with a Mild Phenotype and Literature Review.

Journal: Molecular syndromology

Published: April 20, 2021

Chemo-enzymatic synthesis of the ALG1-CDG biomarker and evaluation of its immunogenicity.

Journal: Bioorganic & medicinal chemistry letters

Published: August 06, 2020

Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience.

Journal: The Journal of pediatrics

Published: August 04, 2020

Apolipoprotein C-III O-glycoform profiling of 500 serum samples by matrix-assisted laser desorption/ionization mass spectrometry for diagnosis of congenital disorders of glycosylation.

Journal: Journal of mass spectrometry : JMS

Published: May 08, 2020

Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review.

Journal: Journal of inherited metabolic disease

Published: July 01, 2019

ALG1-CDG Latest Advances

Find the Latest Research About ALG1-CDG

Resistant Epilepsy and Developmental Delay in a Syndromic Infant: A Case of Congenital Disorder of Glycosylation Type Ik From India.

Resistant Epilepsy and Developmental Delay in a Syndromic Infant: A Case of Congenital Disorder of Glycosylation Type Ik From India.

Prokaryotic expression of human Alg1 protein and analysis of the transmembrane domain properties

Prokaryotic expression of human Alg1 protein and analysis of the transmembrane domain properties

Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients.

Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients.

Targeted Proteomics Reveals Quantitative Differences in Low-Abundance Glycosyltransferases of Patients with Congenital Disorders of Glycosylation.

Targeted Proteomics Reveals Quantitative Differences in Low-Abundance Glycosyltransferases of Patients with Congenital Disorders of Glycosylation.

Normal transferrin glycosylation does not rule out severe ALG1 deficiency.

Normal transferrin glycosylation does not rule out severe ALG1 deficiency.

Corrigendum: ALG1-CDG Caused by Non-Functional Alternative Splicing Involving a Novel Pathogenic Complex Allele.

Corrigendum: ALG1-CDG Caused by Non-Functional Alternative Splicing Involving a Novel Pathogenic Complex Allele.

ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele.

ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele.

ALG1-CDG: A Patient with a Mild Phenotype and Literature Review.

ALG1-CDG: A Patient with a Mild Phenotype and Literature Review.

Chemo-enzymatic synthesis of the ALG1-CDG biomarker and evaluation of its immunogenicity.

Chemo-enzymatic synthesis of the ALG1-CDG biomarker and evaluation of its immunogenicity.

Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience.

Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience.

Apolipoprotein C-III O-glycoform profiling of 500 serum samples by matrix-assisted laser desorption/ionization mass spectrometry for diagnosis of congenital disorders of glycosylation.

Apolipoprotein C-III O-glycoform profiling of 500 serum samples by matrix-assisted laser desorption/ionization mass spectrometry for diagnosis of congenital disorders of glycosylation.

Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review.

Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review.