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Article

Glut1 deficiency syndrome and erythrocyte glucose uptake assay.

Annals of neurology - 1 Dec 2011

Yang Hong, Wang Dong, Engelstad Kristin, Bagay Leslie, Wei Ying, Rotstein Michael, Aggarwal Vimla, Levy Brynn, Ma Lijiang, Chung Wendy K, De Vivo Darryl C

Abstract excerpt

OBJECTIVE: The Glut1 deficiency syndrome (Glut1 DS) phenotype has expanded dramatically since first described in 1991. Hypoglycorrhachia and decreased erythrocyte 3-OMG uptake are confirmatory laboratory biomarkers. The objective is to expand previous observations regarding the diagnostic value of the uptake assay. METHODS: One hundred and nine suspected cases of Glut-1 DS were studied. All cases had a consistent...

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PMID: 22190371
DOI: 10.1002/ana.22640

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OMG

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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