ALG1-CDG Latest Advances

Find the Latest Research About ALG1-CDG

Last Updated: 02/24/2026

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Found 22 publications

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

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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

Journal: Journal of inherited metabolic disease
Published: July 01, 2019

Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.

Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.

Journal: Clinical genetics
Published: November 23, 2018
Showing 1-12 of 22

Last Updated: 02/24/2026