Article

Novel CSF biomarkers of GLUT1 deficiency syndrome: implications beyond the brain’s energy deficit

2022-04-17

Abstract excerpt

We used next-generation metabolic screening to identify new biomarkers for improved diagnosis and pathophysiological understanding of glucose transporter type 1 deficiency syndrome (GLUT1DS), comparing metabolic CSF profiles from 11 patients to those of 116 controls. This confirmed decreased CSF glucose and lactate levels in patients with GLUT1DS and increased glutamine at group level. We identified three novel bi...

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Literature Corpus work: c4e02b23-e9c6-5d98-91af-096aeb9e97a6
DOI: 10.1101/2022.04.15.22273511

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