Evidence map›Paper›PMID 41089746›Full record

ArticleMolecular genetics and metabolism reports2025

Insights into ALG3-CDG: A case study combining glycan profiling and genetic analysis.

Rebeka Kodríková, Zuzana Pakanová, Maroš Krchňák, Veronika Krajčovičová, Anna Šalingová, Katarína Skalická, Miriam Kolníková, Peter Baráth, Marek Nemčovič

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Article in Molecular genetics and metabolism reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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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.

2 · The registry

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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

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5 · Who and what money

Authors and funding

9 authors.

Rebeka KodríkováCenter of Glycomics, Institute of Chemistry, Slovak Academy of Sciences, Dúbravská cesta 9, 841 04 Bratislava, Slovakia.
Zuzana PakanováCenter of Glycomics, Institute of Chemistry, Slovak Academy of Sciences, Dúbravská cesta 9, 841 04 Bratislava, Slovakia.
Maroš KrchňákCenter of Glycomics, Institute of Chemistry, Slovak Academy of Sciences, Dúbravská cesta 9, 841 04 Bratislava, Slovakia.
Veronika KrajčovičováLaboratory of Clinical and Molecular Genetics, National Institute of Children's Diseases, Limbová 1, 833 40 Bratislava, Slovakia.
Anna ŠalingováCenter for Inherited Metabolic Disorders, National Institute of Children's Diseases, Limbová 1, 833 40 Bratislava, Slovakia.
Katarína SkalickáLaboratory of Clinical and Molecular Genetics, National Institute of Children's Diseases, Limbová 1, 833 40 Bratislava, Slovakia.
Miriam KolníkováDepartment of Pediatric Neurology, National Institute of Children's Diseases, Limbová 1, 833 40 Bratislava, Slovakia.
Peter BaráthCenter of Glycomics, Institute of Chemistry, Slovak Academy of Sciences, Dúbravská cesta 9, 841 04 Bratislava, Slovakia.
Marek NemčovičCenter of Glycomics, Institute of Chemistry, Slovak Academy of Sciences, Dúbravská cesta 9, 841 04 Bratislava, Slovakia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Congenital disorders of glycosylation (CDG) are a group of rare metabolic disorders caused by the defects in the glycosylation pathways of biomacromolecules leading to altered glycoprofiles in affected individuals. In this case study, we present a 3-year-old Slovak male patient with developmental delay, hearing impairment, epilepsy, microcephaly, facial dysmorphism, corpus callosum dysgenesis, and cardiac abnormalities. To elucidate the underlying cause, we performed LC-ESI-MS analysis of RapiFluor-labelled

Indexed as

ALG3-CDGCongenital disorders of glycosylationLC-MSMass spectrometryRapiFluor

Identifiers

PMID41089746
PMCPMC12517101

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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.