Glucose Transporter Type I Deficiency (G1D) at 25 (1990-2015): Presumptions, Facts, and the Lives of Persons With This Rare Disease

Author:

Pascual Juan M.,Ronen Gabriel M.

Funder

National Institutes of Health

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,Neurology,Pediatrics, Perinatology and Child Health

Reference125 articles.

1. Glucose transporter deficiency causing persistent Hypoglycorrhachia: a unique cause of infantile seizures and acquired microcephaly;De Vivo;Ann Neurol,1990

2. A second case of defective glucose transport at the blood-brain barrier. Emergence of a novel clinical syndrome;Ronen;Ann Neurol,1991

3. 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

4. A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome;Lee;Mol Cell,2015

5. Selective uptake of [14C]2-deoxyglucose by neurons and astrocytes: high-resolution microautoradiographic imaging by cellular 14C-trajectography combined with immunohistochemistry;Nehlig;J Cereb Blood Flow Metab,2004

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