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bn:00265815n
Noun Concept
Categories: Membrane transport protein disorders, Neurogenetic disorders, Rare diseases, Neurological disorders, Autosomal dominant disorders
EN
encephalopathy due to GLUT1 deficiency  GLUT1 deficiency  De Vivo  De Vivo disease  G1D
EN
GLUT1 deficiency syndrome, also known as GLUT1-DS, De Vivo disease or Glucose transporter type 1 deficiency syndrome, is an autosomal dominant genetic metabolic disorder associated with a deficiency of GLUT1, the protein that transports glucose across the blood brain barrier. Wikipedia
Definitions
Relations
Sources
EN
GLUT1 deficiency syndrome, also known as GLUT1-DS, De Vivo disease or Glucose transporter type 1 deficiency syndrome, is an autosomal dominant genetic metabolic disorder associated with a deficiency of GLUT1, the protein that transports glucose across the blood brain barrier. Wikipedia
Disease Wikidata
IS A
disease
rare disease
brain disorder
genetic disease
neurometabolic disease
GENETIC ASSOCIATION
GLUT1
HEALTH SPECIALTY
medical genetics
Wikipedia
EN
GLUT1 deficiency
Wikidata
EN
encephalopathy due to GLUT1 deficiency
Wikipedia Redirections
EN
De Vivo (Disease), De Vivo disease, Glut1 deficiency, GLUT1 deficiency syndrome
Wikidata Alias
EN
De Vivo disease, Encephalopathy Due To Glut1 Deficiency, G1D, Glucose transport defect, blood-brain barrier, GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE, INCLUDED, Glucose transporter protein syndrome, Glucose transporter type 1 deficiency, Glucose Transporter Type 1 Deficiency Syndrome, Glut-1 deficiency Syndrome, Glut1-DS, Glut1 deficiency, GLUT1 deficiency syndrome, GLUT1 DEFICIENCY SYNDROME 1, Glut1 Deficiency Syndrome 1, Autosomal Recessive, GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1, Glut1 Deficiency Syndrome type 1, GLUT1 DS, GLUT1DS1, Glucose transporter type1 (GLUT-1) deficiency

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