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Glut1 Deficiency Syndrome

Known as: GLUT1 DEFICIENCY SYNDROME 1, De Vivo disease, Encephalopathy Due To Glut1 Deficiency 
 
National Institutes of Health

Papers overview

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2015
2015
Protein kinase C has been implicated in the phosphorylation of the erythrocyte/brain glucose transporter, GLUT1, without a clear… Expand
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Review
2013
Review
2013
Glucose transporter type 1 deficiency syndrome (GLUT1DS) is the result of impaired glucose transport into the brain. The "classic… Expand
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Review
2013
Review
2013
Glut1 deficiency syndrome (Glut1 DS) was originally described in 1991 as a developmental encephalopathy characterized by… Expand
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2013
2013
The classical ketogenic diet has been used for refractory childhood epilepsy for decades. It is also the treatment of choice for… Expand
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2011
2011
OBJECTIVE The Glut1 deficiency syndrome (Glut1 DS) phenotype has expanded dramatically since first described in 1991… Expand
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2009
2009
GLUT1 deficiency syndrome (GLUT1DS) is understood as a monogenetic disease caused by heterozygous SLC2A1 gene mutations with… Expand
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2001
2001
GLUT1 deficiency is caused by a defect in the facilitative glucose transporter GLUT1. Impaired glucose transport across brain… Expand
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Highly Cited
2000
Highly Cited
2000
Juvenile hemangiomas are common, benign vascular tumors of infancy. These lesions enlarge rapidly through cellular hyperplasia… Expand
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Highly Cited
2000
Highly Cited
2000
Fifteen children presenting with infantile seizures, acquired microcephaly, and developmental delay were found to have novel… Expand
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Highly Cited
1995
Highly Cited
1995
The human erythrocyte glucose transporter is an allosteric complex of four GLUT1 proteins whose structure and substrate binding… Expand
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