Results 281 to 290 of about 275,720 (332)

Movement Disorders in Glucose Transporter Type 1 Deficiency [PDF]

open access: possibleJournal of Pediatric Neurology, 2015
Movement disorders constitute an important and distinctive clinical consequence of glucose transporter type 1 deficiency. Gait disturbances and dyskinesias can be present chronically, and can fluctuate daily with fasting, exercise, and other environmental triggers.
Darryl C. De Vivo, Roser Pons
openaire   +1 more source

Expression of glucose transporters in duodenal mucosa of patients with type 1 diabetes

Acta Diabetologica, 2020
A higher SGLT1 and GLUT2 gene expression was shown in the intestine of subjects with type 2 diabetes, while no data have been reported in type 1 diabetes (T1D). The purpose of our study was to evaluate the expression of glucose transporters in duodenal mucosa of subjects with T1D, compared to healthy controls (CTRL) and to patients with celiac disease (
Bolla A. M.   +9 more
openaire   +3 more sources

The glucose transporter type 1 (Glut1) syndromes

Epilepsy & Behavior, 2019
The glucose transporter type 1 (Glut1) is the most important energy carrier of the brain across the blood-brain barrier. In the early nineties, the first genetic defect of Glut1 was described and known as the Glut1 deficiency syndrome (Glut1-DS). It is characterized by early infantile seizures, developmental delay, microcephaly, and ataxia.
Henner Koch, Yvonne G. Weber
openaire   +3 more sources

Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: impaired glucose transport into brain – a review

European Journal of Pediatrics, 2002
Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome (MIM 138140) defines a prototype of a novel group of disorders resulting from impaired glucose transport across blood-tissue barriers. It is caused by a defect in glucose transport into brain, mediated by the facilitative glucose transporter GLUT1.
Klepper, Jörg, Voit, Thomas
openaire   +3 more sources

Three Japanese patients with glucose transporter type 1 deficiency syndrome

Brain and Development, 2007
We report three Japanese patients with glucose transporter type 1 deficiency syndrome (Glut1DS). Two patients had a normal erythrocyte 3-O-methylglucose (3OMG) uptake, one with a previously reported T295M substitution and the other with a novel 12-bp insertion at nt 1034-1035, ins CAGCAGCTGTCT.
Yuan-Yuan Ho   +9 more
openaire   +3 more sources

Sleep Disorder: An Overlooked Manifestation of Glucose Transporter Type-1 Deficiency Syndrome

Neuropediatrics, 2021
AbstractGlucose transporter type-1 deficiency syndrome (Glut1 DS) is a rare disorder with various manifestations. Early diagnosis is crucial because treatment with the ketogenic diet can lead to clinical improvement. Here, we report the cases of two siblings with Glut1 DS and one of them presented with sleep disorder which is a rare and atypical ...
Kingthong Anurat   +4 more
openaire   +3 more sources

Inhibition of glucose transport and direct interactions with type 1 facilitative glucose transporter (GLUT-1) by etomidate, ketamine, and propofol

Biochemical Pharmacology, 2000
Ketamine, etomidate, propofol, and pentobarbital were compared for effects on and interactions with the type 1 facilitative glucose transporter (GLUT-1). Fluxes of radiolabeled hexoses were used to determine the effects of anesthetics on GLUT-1 function.
Howard C. Haspel   +4 more
openaire   +3 more sources

Glucose transporter type 1 deficiency syndrome associated with autoantibodies to glutamate receptors

Brain and Development, 2020
The clinical spectrum of glucose transporter type 1 deficiency syndrome (GLUT1DS) has broadened, with increasing recognition of a milder phenotype. Antibodies targeting the subunits of glutamate receptors (GluRs), including GluN1, GluN2B, and GluD2, have been detected in various neurological disorders.
Hiroki Hoshino   +4 more
openaire   +2 more sources

Home - About - Disclaimer - Privacy