Glut-1 deficiency syndrome: Clinical, ge
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Dong Wang; Juan M. Pascual; Hong Yang; Kristin Engelstad; Sarah Jhung; Ruo Peng
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Article
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2004
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John Wiley and Sons
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English
β 106 KB
## Abstract Impaired glucose transport across the bloodβbrain barrier results in Glutβ1 deficiency syndrome (Glutβ1 DS, OMIM 606777), characterized by infantile seizures, developmental delay, acquired microcephaly, spasticity, ataxia, and hypoglycorrhachia. We studied 16 new Glutβ1 deficiency syndr