Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).
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Crystal structure of the human glucose transporter GLUT1Targeted Next Generation Sequencing in Patients with Inborn Errors of MetabolismParoxysmal eye-head movements in Glut1 deficiency syndromeSeizures and epilepsy: an overview for neuroscientistsAssociation between coenzyme Q10 and glucose transporter (GLUT1) deficiency.Favourable response to ketogenic dietary therapies: undiagnosed glucose 1 transporter deficiency syndrome is only one factor.Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damageGLUT1 reductions exacerbate Alzheimer's disease vasculo-neuronal dysfunction and degenerationGenetic forms of epilepsies and other paroxysmal disordersPathway-driven discovery of epilepsy genes.CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome.Brain correlates of spike and wave discharges in GLUT1 deficiency syndrome.Cerebral metabolic abnormalities in A3243G mitochondrial DNA mutation carriers.GLUT1 deficiency syndrome into adulthood: a follow-up study.Unusual phenotype of glucose transport protein type 1 deficiency syndrome: A case report and literature review.Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm.The genetics of the epilepsies.Single-Gene Determinants of Epilepsy Comorbidity.A novel diagnostic approach to patients with myoclonus.GLUT, SGLT, and SWEET: Structural and mechanistic investigations of the glucose transporters.Epileptic encephalopathy: Use and misuse of a clinically and conceptually important concept.Glucose Transporters at the Blood-Brain Barrier: Function, Regulation and Gateways for Drug Delivery.Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.The vicious circle of hypometabolism in neurodegenerative diseases: Ways and mechanisms of metabolic correction.Clinical Aspects of Glucose Transporter Type 1 Deficiency: Information From a Global Registry.Atypical Manifestations in Glut1 Deficiency Syndrome.Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties.Genetics of Epilepsy in Clinical Practice.The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.A Cause of Permanent Ketosis: GLUT-1 Deficiency.Understanding the Spectrum of SLC2A1-Associated DisordersSugar and Alzheimer's disease: a bittersweet truth.Evaluation of non-coding variation in GLUT1 deficiency.Isogenic blood-brain barrier models based on patient-derived stem cells display inter-individual differences in cell maturation and functionality.Analysis of Gait Disturbance in Glut 1 Deficiency Syndrome.Human Cortex Spheroid with a Functional Blood Brain Barrier for High-Throughput Neurotoxicity Screening and Disease Modeling.Mfsd2a and Glut1 Brain Nutrient Transporters Expression Increase with 32-Week Low and High Lard Compared with Fish-Oil Dietary Treatment in C57Bl/6 Mice
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Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).
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article científic
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article scientifique
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articol științific
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articolo scientifico
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artigo científico
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artigo científico
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artigo científico
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artikel ilmiah
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artículo científico
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name
Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).
@en
type
label
Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).
@en
prefLabel
Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).
@en
P2093
P2860
P1476
Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).
@en
P2093
Cigdem Akman
Darryl C De Vivo
Kristin Engelstad
Toni S Pearson
Veronica J Hinton
P2860
P2888
P356
10.1007/S11910-013-0342-7
P577
2013-04-01T00:00:00Z
P6179
1052290879