Results 11 to 20 of about 275,720 (332)

Paroxysmal Exercise-induced Dyskinesias Caused by GLUT1 Deficiency Syndrome [PDF]

open access: yesTremor and Other Hyperkinetic Movements, 2016
Background: Glucose transporter type 1 deficiency syndrome is due to de novo mutations in the SLC2A1 gene encoding the glucose transporter type 1.
Marie Mongin   +4 more
doaj   +3 more sources

Glucose transporter type 1 deficiency syndrome: clinical aspects, diagnosis, and treatment

open access: diamondArchivos Argentinos de Pediatria, 2022
Glucose transporter type 1 deficiency with a typical onset is a genetic disorder associated with the SLC2A1 gene. Usually appears during the first years of life with severe developmental delay, drugresistant epilepsy, and movement disorders. Diagnosis is suspected based on clinical manifestations and a low glucose level in cerebrospinal fluid,and ...
Gabriel Veneruzzo   +4 more
openalex   +3 more sources

Glucose Transporter Type 1 Deficiency Syndrome: A Single-Center Case Series

open access: yesTürk Nöroloji Dergisi, 2021
Glucose transporter type 1 deficiency syndrome is a neurometabolic encephalopathy characterized by movement disorders, intractable seizures, and acquired microcephaly.
Miraç Yıldırım   +4 more
doaj   +2 more sources

Glucose transporter 1 (GLUT1) expression is associated with intestinal type of gastric carcinoma [PDF]

open access: greenJournal of Korean Medical Science, 2000
Increased expression of glucose transporter1 (GLUT1) has been reported in many human cancers. We hypothesized that the degree of GLUT1 might provide a useful biological information in gastric adenocarcinoma. RT-PCR and immunostaining were used to analyze GLUT1 expression in gastric cancer.
Wan Seop Kim   +4 more
openalex   +4 more sources

Assessing glucose uptake through the yeast hexose transporter 1 (Hxt1). [PDF]

open access: yesPLoS ONE, 2015
The transport of glucose across the plasma membrane is mediated by members of the glucose transporter family. In this study, we investigated glucose uptake through the yeast hexose transporter 1 (Hxt1) by measuring incorporation of 2-NBDG, a non ...
Adhiraj Roy   +3 more
doaj   +5 more sources

Clinical and genetic analysis of children with glucose transporter type 1 deficiency syndrome. [PDF]

open access: yesMed Int (Lond)
Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a rare metabolic encephalopathy with a wide variety of clinical phenotypes. In the present study, 15 patients diagnosed with GLUT1-DS were selected, all of whom had obvious clinical manifestations and complete genetic testing. Their clinical data and genetic reports were collated.
Qian H   +11 more
europepmc   +3 more sources

Ketogenic Diet for Seizure Management in Glucose Transporter Type 1 Deficiency Syndrome: A Case Report [PDF]

open access: goldJournal of Clinical and Diagnostic Research
Glucose transporter Type 1 (GLUT1) deficiency syndrome is a rare genetic disorder impairing glucose transport across the blood-brain barrier, leading to reduced brain glucose availability and neurological symptoms, including epilepsy. The Ketogenic Diet (
Soma Basu   +2 more
doaj   +2 more sources

Experience with the use of a ketogenic diet with type 1 glucose transporter deficiency (De Vivo disease)

open access: diamondРусский журнал детской неврологии, 2021
De Vivo disease is characterized by early epileptic encephalopathy, delayed psychomotor development, spasticity, the formation of microcephaly, ataxia, dysarthria, alternating hemiplegia, and a decrease in glucose and lactate levels in the cerebrospinal ...
N. G. Lyukshina
doaj   +3 more sources

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