Disease: Glucose Transporter Type 1 Deficiency Syndrome
- <em>In situ</em> microwave fixation provides an instantaneous snapshot of the brain metabolome
- A case report of glucose transporter 1 deficiency syndrome with growth hormone deficiency diagnosed before starting ketogenic diet
- A Challenging Diagnosis of Atypical Glut1-DS: A Case Report and Literature Review
- A concise study of acetazolamide in glucose transporter type 1 deficiency (G1D) epilepsy
- A ligand-based computational drug repurposing pipeline using KNIME and Programmatic Data Access: case studies for rare diseases and COVID-19
- A Novel Intronic Variant in <em>SLC2A1</em> Gene in a Saudi Patient with Myoclonic Epilepsy
- A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndrome
- Abnormal gait and hypoglycorrhachia in a toddler with seizures
- Additional data on head circumference in patients with glucose transporter 1 deficiency syndrome: The Glut1 deficiency foundation conference cohort
- An early endothelial cell-specific requirement for Glut1 is revealed in Glut1 deficiency syndrome model mice
- An empirical pipeline for personalized diagnosis of Lafora disease mutations
- An in vitro model of glucose transporter 1 deficiency syndrome at the blood-brain barrier using induced pluripotent stem cells
- Analysis of clinical phenotype and variant of SLC2A1 gene in a Chinese pedigree affected with glucose transporter 1 deficiency syndrome
- Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndrome
- Brain glycogen serves as a critical glucosamine cache required for protein glycosylation
- CACNA1A-Linked Hemiplegic Migraine in GLUT 1 Deficiency Syndrome: A Case Report
- Case report: KETOLAND the psychoeducation program for ketogenic diet
- Case Report: The Association of Wilson Disease in a Patient With Ataxia and GLUT-1 Deficiency
- Classic Ketogenic Diet and Modified Atkins Diet in SLC2A1 Positive and Negative Patients with Suspected GLUT1 Deficiency Syndrome: A Single Center Analysis of 18 Cases
- Classic ketogenic diet in parenteral nutrition in a GLUT1DS patient: Doing more with less in an acute surgical setting
- Clinical and Genetic Characteristics of Chinese Children With GLUT1 Deficiency Syndrome: Case Report and Literature Review
- Clinical characteristics and ketogenic diet therapy of glucose transporter type 1 deficiency syndrome in children: a multicenter clinical study
- Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic <em>HK1</em> Variants
- Complete absence of GLUT1 does not impair human terminal erythroid differentiation
- Criss-cross gait: A clue to glucose transporter type 1 deficiency syndrome
- Current avenues of gene therapy in Pompe disease
- Development and validation of a LC-MS/MS method for quantitation of 3-hydroxypentanoic acid and 3-oxopentanoic acid in human plasma and its application to a clinical study of glucose transporter type I deficiency (G1D) syndrome
- Diagnostic and Clinical Manifestation Differences of Glucose Transporter Type 1 Deficiency Syndrome in a Family with SLC2A1 Gene Mutation
- Dietary Treatments for Epilepsy
- Differentiating non-epileptic seizures from epileptic seizures in Glut1 deficiency syndrome
- Discovery of Glut 1 Deficiency Syndrome: Cerebrospinal Fluid Inspiration and Serendipity
- Effects of Sodium Lactate Infusion in Two Girls with Glucose Transporter 1 Deficiency Syndrome
- Emerging roles of N-linked glycosylation in brain physiology and disorders
- Endothelium-derived lactate is required for pericyte function and blood-brain barrier maintenance
- Enhancement of Ketone Supplements-Evoked Effect on Absence Epileptic Activity by Co-Administration of Uridine in Wistar Albino Glaxo Rijswijk Rats
- Exogenous Ketone Supplements Improved Motor Performance in Preclinical Rodent Models
- Exploring diazoxide and continuous glucose monitoring as treatment for Glut1 deficiency syndrome
- First-in-Class Dual Targeting Compounds for the Management of Seizures in Glucose Transporter Type 1 Deficiency Syndrome
- Genetic cause of epilepsy in a Greek cohort of children and young adults with heterogeneous epilepsy syndromes
- Glucose transporter type 1 deficiency syndrome: clinical aspects, diagnosis, and treatment
- Glucose transporters in brain in health and disease
- GLUT-1 transporter deficiency presenting as hemiplegic migraine in an adult
- GLUT-1DS resistant to ketogenic diet: from clinical feature to in silico analysis. An exemplificative case report with a literature review
- GLUT1 and COVID-19 deficiency syndrome
- Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group
- Glut1 deficiency syndrome throughout life: clinical phenotypes, intelligence, life achievements and quality of life in familial cases
- GLUT1 Deficiency Syndrome-Early Treatment Maintains Cognitive Development? (Literature Review and Case Report)
- Glut1 deficiency syndrome: New and emerging insights into a prototypical brain energy failure disorder
- GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders
- Gys1 Antisense Therapy Prevents Disease-Driving Aggregates and Epileptiform Discharges in a Lafora Disease Mouse Model
- Head circumference in glucose transporter 1 deficiency syndrome: Normal for individuals, abnormal as a group
- Hemidystonia and hemichorea in a pediatric patient with glucose transporter type 1 deficiency
- Hemiplegic Migraine in Glut1 Deficiency Syndrome and Paroxysmal Dyskinesia at Ketogenic Diet Induction: Case Report and Literature Review
- Human milk and breastfeeding during ketogenic diet therapy in infants with epilepsy: Clinical practice guideline
- Human-Induced Pluripotent Stem Cell-Based Model of the Blood-Brain at 10 Years: A Retrospective on Past and Current Disease Models
- Identification of Glucose Transport Modulators In Vitro and Method for Their Deep Learning Neural Network Behavioral Evaluation in Glucose Transporter 1-Deficient Mice
- In situ spatial glycomic imaging of mouse and human Alzheimer's disease brains
- Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment
- Intermittent Alternating Eye-Head Synkinesia in GLUT1 Deficiency Syndrome
- Intra-cisterna magna delivery of an AAV vector with the GLUT1 promoter in a pig recapitulates the physiological expression of SLC2A1
- Is ketogenic diet a 'precision medicine'? Recent developments and future challenges
- Ketogenic diet administration to mice after a high-fat-diet regimen promotes weight loss, glycemic normalization and induces adaptations of ketogenic pathways in liver and kidney
- Ketogenic Diet in Glut 1 Deficiency Through the Life Cycle: Pregnancy to Neonate to Preschooler
- Ketogenic diet therapy in children with epilepsy caused by SLC2A1 mutations: a single-center single-arm retrospective study
- Ketogenic dietary therapies for epilepsy: Experience in 160 patients over 18 years
- Ketogenic dietary therapies for epilepsy: Experience in 160 patients over 18 years
- Lenticular nuclei to thalamic ratio on PET is useful for diagnosis of GLUT1 deficiency syndrome
- Leukoencephalopathy in infancy with glucose transporter type 1 deficiency syndrome
- Long-term follow-up of nutritional status in children with GLUT1 Deficiency Syndrome treated with classic ketogenic diet: a 5-year prospective study
- Longstanding Paroxysmal Dyskinesia in GLUT1 Deficiency Syndrome
- Metabolic modulation of synaptic failure and thalamocortical hypersynchronization with preserved consciousness in Glut1 deficiency
- Molecular Genetics of GLUT1DS Italian Pediatric Cohort: 10 Novel Disease-Related Variants and Structural Analysis
- Nanotechnology may provide hope for patients with glucose transporter type 1 deficiency syndrome
- Neonatal seizures as onset of Inborn Errors of Metabolism (IEMs): from diagnosis to treatment. A systematic review
- NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges
- Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit
- Novel insight into GLUT1 deficiency syndrome: screening for emotional and behavioral problems in youths following ketogenic diet
- Nutritional Intervention Through Ketogenic Diet in GLUT1 Deficiency Syndrome
- One Molecule for Mental Nourishment and More: Glucose Transporter Type 1-Biology and Deficiency Syndrome
- Paroxysmal, exercise-induced, diurnally fluctuating dystonia: Expanding the phenotype of SPG8
- Phenotypic and Genotypic Spectrum of Glucose Transporter-1 Deficiency Syndrome
- Positive impact of a modified Atkins diet on cognition, seizure control, and abnormal movements in an adult with glucose transporter type 1 deficiency syndrome: case report
- Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome
- Pseudohyperkalemia due to cryohydrocytosis in GLUT1 deficiency syndrome. A case report and literature review
- Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome
- Quantitative Three-Dimensional Gait Evaluation in Patients With Glucose Transporter 1 Deficiency Syndrome
- Re-analysis of whole-exome sequencing data reveals a novel splicing variant in the SLC2A1 in a patient with GLUT1 Deficiency Syndrome 1 accompanied by hemangioma: a case report
- Red blood cells as glucose carriers to the human brain: Modulation of cerebral activity by erythrocyte exchange transfusion in Glut1 deficiency (G1D)
- RIT1 regulation of CNS lipids RIT1 deficiency Alters cerebral lipid metabolism and reduces white matter tract oligodendrocytes and conduction velocities
- Role of EEG as a monitoring tool in patients with glucose transporter type I deficiency syndrome (GLUT1-DS) on ketogenic diet
- Sleep Disorder: An Overlooked Manifestation of Glucose Transporter Type-1 Deficiency Syndrome
- Spatial metabolomics reveals glycogen as an actionable target for pulmonary fibrosis
- Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome
- The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1
- The multifaceted roles of the brain glycogen
- Timing of Ketogenic Dietary Therapy (KDT) Introduction and Its Impact on Cognitive Profiles in Children with Glut1-DS-A Preliminary Study
- Treatable Ataxias: How to Find the Needle in the Haystack?
- Uncommon use of intermittent glucose administration for infrequent non-epileptic paroxysmal events in GLUT1-DS
- Updates on the diagnostic evaluation, genotype-phenotype correlation, and treatments of genetic epilepsies
- Visual-sensitive epilepsy in GLUT-1 deficiency syndrome: Expanding the phenotype