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GLUT1 deficiency syndrome in clinical practice

✍ Scribed by Joerg Klepper


Book ID
116451558
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
436 KB
Volume
100
Category
Article
ISSN
0920-1211

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## Abstract Impaired glucose transport across the blood‐brain barrier results in Glut‐1 deficiency syndrome (Glut‐1 DS, OMIM 606777), characterized by infantile seizures, developmental delay, acquired microcephaly, spasticity, ataxia, and hypoglycorrhachia. We studied 16 new Glut‐1 deficiency syndr