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- W1498779874 abstract "Abstract The GLUT‐1 deficiency is a metabolic disorder caused by a defect in glucose transport across the blood–brain barrier as a result of a defect in the glucose‐transport protein. Patients present with epileptic seizures, delayed development, ataxia and hypotonia, and in many cases acquired microcephaly. In most patients, treatment with a ketogenic diet proved to be successful in controlling the epilepsy. We report a 9‐year‐old boy with retardation and ataxia, but without epilepsy, caused by GLUT‐1 deficiency, proven biochemically and by DNA analysis. Treatment with a medium‐chain triglyceride ketogenic diet had a beneficial effect." @default.
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- W1498779874 date "2003-09-01" @default.
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- W1498779874 title "GLUT‐1 deficiency without epilepsy—an exceptional case" @default.
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- W1498779874 doi "https://doi.org/10.1023/a:1025999914822" @default.
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