Long-term follow-up in an open-label trial of triheptanoin in GLUT1 deficiency syndrome: a sustained dramatic effect

Volume: 90, Issue: 11, Pages: 1291 - 1293
Published: Apr 4, 2019
Abstract
Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is caused by heterozygous mutations in the SLC2A1 gene. Glucose transport is impaired across the blood–brain barrier and into astrocytes. This eventually results in cerebral energy deficiency.1 Typically, GLUT1-DS is associated with developmental delay, permanent motor disorders and paroxysmal manifestations including epileptic and non-epileptic paroxysmal episodes.1 2 The phenotypic...
Paper Details
Title
Long-term follow-up in an open-label trial of triheptanoin in GLUT1 deficiency syndrome: a sustained dramatic effect
Published Date
Apr 4, 2019
Volume
90
Issue
11
Pages
1291 - 1293
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