ALG1-CDG Latest Advances

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

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

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

Journal: Clinical genetics

Published: November 23, 2018

A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.

Journal: The Journal of pediatrics

Published: July 08, 2016

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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

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.

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.

A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.

A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.