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Article

CSF N-glycan profiles to investigate biomarkers in brain developmental disorders: application to leukodystrophies related to eIF2B mutations.

PloS one - 1 Jan 2012

Fogli Anne, Merle Christine, Roussel Véronique, Schiffmann Raphael, Ughetto Sylvie, Theisen Manfred, Boespflug-Tanguy Odile

Abstract excerpt

BACKGROUND: Primary or secondary abnormalities of glycosylation have been reported in various brain diseases. Decreased asialotransferrin to sialotransferrin ratio in cerebrospinal fluid (CSF) is a diagnostic marker of leukodystrophies related to mutations of genes encoding translation initiation factor, EIF2B. We investigated the CSF glycome of eIF2B-mutated patients and age-matched normal individuals in order...

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Identifiers

PMID: 22952606
DOI: 10.1371/journal.pone.0042688
PMCID: PMC3430715

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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