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Sensitivity and specificity of decreased CSF asialotransferrin for eIF2B-related disorder

OBJECTIVE: This is a study estimating diagnostic accuracy of CSF asialotransferrin to transferrin ratio measurement in eIF2B related disorders by using clinical evaluation and EIF2B mutation analysis as the reference standard. eIF2B-related disorder is a relatively common leukodystrophy with broad p...

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Detalhes bibliográficos
Main Authors: Vanderver, A., Hathout, Y., Maletkovic, J., Gordon, E.S., Mintz, M., Timmons, M., Hoffman, E.P., Horzinski, L., Niel, F., Fogli, A., Boespflug-Tanguy, O., Schiffmann, R.
Formato: Artigo
Idioma:Inglês
Publicado em: 2008
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4147953/
https://ncbi.nlm.nih.gov/pubmed/18519871
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/01.wnl.0000313857.54398.0e
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