ReviewJournal of inherited metabolic disease2011
The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation.
Review in Journal of inherited metabolic disease, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
25 citing papers in PubMed, 52 citations in OpenAlex.
- Integrated glycoproteomics reveals site-specific N-glycosylation defects in phosphomannomutase two congenital disorder of glycosylation.The Journal of biological chemistry · 2026Article
- IgG Glycosylation Analysis in Patients with Ring14 Syndrome Unveils Novel Pathomechanisms and New Therapy Perspectives.Biomolecules · 2026Article
- Targeted metabolomic evaluation of peripheral blood mononucleated cells from patients with PMM2-CDG.Scientific reports · 2025Article
- Article
- Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis.Orphanet journal of rare diseases · 2024Article
- N-Glycomics of Human Erythrocytes.International journal of molecular sciences · 2021Article
- Clinical, molecular and glycophenotype insights in SLC39A8-CDG.Orphanet journal of rare diseases · 2021Article
- Aberrant sialylation in a patient with aiScience · 2021Article
- Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis.Glycoconjugate journal · 2021Article
- HILIC-UPLC-MS for high throughput and isomeric N-glycan separation and characterization in Congenital Disorders Glycosylation and human diseases.Glycoconjugate journal · 2021Article
- Matrix-Assisted Laser Desorption/Ionization Mass Spectrometry to Detect Diagnostic Glycopeptide Markers of Congenital Disorders of Glycosylation.Mass spectrometry (Tokyo, Japan) · 2020Article
- ALG12-CDG: novel glycophenotype insights endorse the molecular defect.Glycoconjugate journal · 2019Article
- Myo-Glyco disease Biology: Genetic Myopathies Caused by Abnormal Glycan Synthesis and Degradation.Journal of neuromuscular diseases · 2019Review
- Congenital disorders of glycosylation.Annals of translational medicine · 2018Review
- Precursor ion survival energies of protonated N-glycopeptides and their weak dependencies on high mannose N-glycan composition in collision-induced dissociation.The Analyst · 2018Article
- Clinical glycomics for the diagnosis of congenital disorders of glycosylation.Journal of inherited metabolic disease · 2018Review
- Optimizing High-Resolution Mass Spectrometry for the Identification of Low-Abundance Post-Translational Modifications of Intact Proteins.Journal of proteome research · 2017Article
- Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylation.Glycoconjugate journal · 2016Review
- Solving glycosylation disorders: fundamental approaches reveal complicated pathways.American journal of human genetics · 2014Review
- Mutations in STT3A and STT3B cause two congenital disorders of glycosylation.Human molecular genetics · 2013Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Contribution of mass spectrometry (MS) in the diagnosis and characterization of congenital disorders of glycosylation (CDG) has long been known. CDG type I diseases are characterized by the under-occupancy of protein N-glycosylation sites. Electrospray (ESI) MS and matrix assisted laser desorption ionization (MALDI) MS are effective for underglycosylation analyses of intact serum Transferrin (Tf) in CDG-I patients by mass determination of individual component glycoforms. Thus, high-throughput methods developed to speed-up analytical times found increasing application in clinical testing for CDG detection. ESI MS recognizable glycoform profiles of serum Tf have been reported in CDG-I different from PMM2-CDG and in individual CDG-II defects. MALDI MS analysis of acidic and neutral N-linked glycans released from total plasma or targeted glycoproteins, is the mainstream tool to explore abnormal oligosaccharide structure and changes in the relative amount of individual oligosaccharides in CDG-II patients. Here we briefly review state-of-the-art and updates of MS-based applications for the diagnosis of CDG with special emphasis to detectable glycosylation profiles reported in different CDG types.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.