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Article

T295M-associated Glut1 deficiency syndrome with normal erythrocyte 3-OMG uptake.

Brain & development - 1 Apr 2011

Fujii Tatsuya, Morimoto Masafumi, Yoshioka Hiroshi, Ho Yuan-Yuan, Law Peggy P Y, Wang Dong, De Vivo Darryl C

Abstract excerpt

PURPOSE: Glucose transporter type 1 (Glut1) is expressed in vascular endothelial cells comprising blood-brain barrier. Glut1 deficiency syndrome is characterized by low cerebrospinal fluid (CSF) concentration of glucose with normoglycemia, infantile seizure, acquired microcephaly, developmental d...

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Source

Identifiers

PMID: 20630673
DOI: 10.1016/j.braindev.2010.06.012

Genes

OMG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20630673-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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