Glut1 deficiency: When to suspect and how to diagnose?
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health
Reference66 articles.
1. Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects;Wang;Ann Neurol,2005
2. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay;De Vivo;N Engl J Med,1991
3. GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier;Seidner;Nat Genet,1998
4. Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome;Wang;Hum Mutat,2000
5. Autosomal dominant transmission of GLUT1 deficiency;Klepper;Hum Mol Genet,2001
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