Associated Papers
Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome.
Tayebi N et al.
Annals of Clinical and Translational Neurology, 2023
A novel mutation in a Fijian boy with Shwachman-Diamond syndrome.
Newman AR et al.
Journal of Pediatric Hematology/oncology, 2009
Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.
Wang D et al.
Annals of Neurology, 2005
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