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CSF N-Glycan Profiles to Investigate Biomarkers in Brain Developmental Disorders: Application to Leukodystrophies Related to eIF2B Mutations
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 fa...
Autores principales: | Fogli, Anne, Merle, Christine, Roussel, Véronique, Schiffmann, Raphael, Ughetto, Sylvie, Theisen, Manfred, Boespflug-Tanguy, Odile |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3430715/ https://www.ncbi.nlm.nih.gov/pubmed/22952606 http://dx.doi.org/10.1371/journal.pone.0042688 |
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