Novel mutation in a patient with late onset GLUT1 deficiency syndrome
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DOI: 10.1016/j.braindev.2016.11.007
Abstract: Glucose transporter 1 deficiency syndrome (GLUT1-DS) is an inborn error of metabolism caused by impaired glucose transport through blood brain barrier due to mutation in SLC2A1 gene, encoding transporter protein. Clinical spectrum includes various signs… read more here.
Keywords: late onset; patient late; deficiency syndrome; onset glut1 ... See more keywords