Evidence map›Paper›PMID 42511652›Full record

ArticleInternational journal of molecular sciences2026

Diagnosis of Congenital Disorders of Glycosylation Type II Subtypes Through Comprehensive N-Glycan Profiling by Mass Spectrometry.

Alan R Mól, Nilza do C Fontes, Savana C L Santos, Cynthia Costa E Silva, Gerson da S Carvalho, Bruno J C B Lima, Walquíria D de Mello, Daniel R de Carvalho, Eder A Barbosa, Dirk J Lefeber and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors.

Alan R MólLaboratório de Síntese e Análise de Biomoléculas-LSAB, Instituto de Química, Universidade de Brasília, Brasília 70910-900, Brazil.ORCID 0000-0003-4029-3410
Nilza do C FontesLaboratório de Genética Bioquímica, Rede Sarah de Hospitais de Reabilitação, Brasília 70335-901, Brazil.
Savana C L SantosLaboratório de Biologia Molecular, Rede Sarah de Hospitais de Reabilitação, Brasília 70335-901, Brazil.ORCID 0009-0001-0615-0777
Cynthia Costa E SilvaLaboratório de Biologia Molecular, Rede Sarah de Hospitais de Reabilitação, Brasília 70335-901, Brazil.
Gerson da S CarvalhoHospital de Apoio de Brasília, Secretaria de Saúde do Distrito Federal, Brasília 70684-831, Brazil.ORCID 0000-0002-8809-7825
Bruno J C B LimaHospital Universitário Júlio Muller, Faculdade de Medicina, Universidade Federal de Mato Grosso, Cuiabá 78048-902, Brazil.
Walquíria D de MelloClínica de Pediatria do Hospital Infantil João Paulo II, Fundação Hospitalar do Estado de Minas Gerais, Belo Horizonte 30130-110, Brazil.
Daniel R de CarvalhoLaboratório de Genética Bioquímica, Rede Sarah de Hospitais de Reabilitação, Brasília 70335-901, Brazil.
Eder A BarbosaLaboratório de Síntese e Análise de Biomoléculas-LSAB, Instituto de Química, Universidade de Brasília, Brasília 70910-900, Brazil.ORCID 0000-0002-7613-4414
Dirk J LefeberTranslational Metabolic Laboratory, Department of Human Genetics, Donders Center for Brain, Cognition, and Behavior, Radboud University Medical Center, 6525 Nijmegen, The Netherlands.
Juliana F MazzeuLaboratório de Genética Clínica, Faculdade de Medicina, Universidade de Brasília, Brasília 70910-900, Brazil.
Jaime M BrumLaboratório de Síntese e Análise de Biomoléculas-LSAB, Instituto de Química, Universidade de Brasília, Brasília 70910-900, Brazil.
Guilherme D BrandLaboratório de Síntese e Análise de Biomoléculas-LSAB, Instituto de Química, Universidade de Brasília, Brasília 70910-900, Brazil.ORCID 0000-0002-1615-0009

Funding

Coordenação de Aperfeicoamento de Pessoal de Nível Superior 88887.202118/2025-00Foundation for Research Support of the Federal District 00193-00002149/2023-71
6 · The paper itself

Abstract

Congenital disorders of glycosylation (CDG) are a group of inherited metabolic diseases rapidly growing due to the discovery of new subtypes. As with many genetic conditions, their diagnosis can be challenging, impairing proper patient care and causing additional suffering to patients and their families. We have developed an N-glycomics strategy that can provide insightful information towards diagnosing CDG type II (CDG-II). N-glycans released from the plasma of healthy individuals were labeled with deuterated iodomethane, mixed with samples from known or suspected CDG-II individuals, which were derivatized with standard iodomethane, and analyzed by liquid chromatography-mass spectrometry. After identification, relative quantification of 65 glycans was performed, revealing considerable alterations in the N-glycome of several patients. Notably, reduced fucosylation was observed in patients with FUT8-CDG and SLC35C1-CDG. Additionally, individuals with mutations in the

Indexed as

Congenital Disorders of GlycosylationPolysaccharidesGlycomicsGlycosylationHumansLiquid Chromatography-Mass SpectrometryMass SpectrometryMutationPolysaccharidescongenital disorders of glycosylationglycomicsinherited metabolic diseasesmass spectrometrystable isotopic labeling

Identifiers

PMID42511652
PMCPMC13411261

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Registered trials

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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.