- Glucose Transporter Type 1 Deficiency Syndrome
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Kim SK
- KMID: 2329511
- J Korean Child Neurol Soc.
- 2007 Nov;15(2):131-141.
D-glucose is an essential fuel for metabolism in mammalian cells and the predominant fuel source for the brain. Transport of glucose across tissue barriers is mediated by stereospecific transporter proteins.... -
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- A Case Report of Glucose Transporter 1 Deficiency Syndrome with a Novel Splice Site Mutation (SLC2A1: c.680-2delA)
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Shin JS, Lee MJ, Kim SH
- KMID: 2176757
- J Korean Child Neurol Soc.
- 2014 Sep;22(3):182-185.
Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is caused by impaired glucose transport across the blood-brain barrier (BBB) and characterized by infantile seizures, developmental delay, acquired microcephaly, spasticity, ataxia, and... -
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