Works matching DE "GLUCOSE transporter 1 deficiency syndrome"
Results: 73
Evaluation of non-coding variation in GLUT1 deficiency.
- Published in:
- 2016
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- Publication type:
- journal article
GLUT1 deficiency: progress in unraveling its genetic basis.
- Published in:
- 2016
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- Publication type:
- journal article
Use of modified Atkins diet in glucose transporter type 1 deficiency syndrome.
- Published in:
- 2016
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- Publication type:
- journal article
Alternative ketogenic diets in glucose transporter type 1 deficiency syndrome.
- Published in:
- 2016
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- Publication type:
- journal article
Favourable response to ketogenic dietary therapies: undiagnosed glucose 1 transporter deficiency syndrome is only one factor.
- Published in:
- 2015
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- Publication type:
- journal article
GLUT1 deficiency syndrome and ketogenic diet therapies: missing rare but treatable diseases?
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- Developmental Medicine & Child Neurology, 2015, v. 57, n. 10, p. 896, doi. 10.1111/dmcn.12807
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- Article
GLUT-1 deficiency syndrome in Norway - yet another piece of the puzzle.
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- Developmental Medicine & Child Neurology, 2013, v. 55, n. 5, p. 400, doi. 10.1111/dmcn.12104
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- Publication type:
- Article
Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study.
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- Developmental Medicine & Child Neurology, 2013, v. 55, n. 5, p. 440, doi. 10.1111/dmcn.12096
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- Article
Paliurus spina-christi Mill fruit extracts improve glucose uptake and activate the insulin signaling pathways in HepG2 insulin-resistant cells.
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- BMC Complementary Medicine & Therapies, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12906-023-03977-y
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- Publication type:
- Article
A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood.
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- Cephalalgia, 2015, v. 35, n. 1, p. 10, doi. 10.1177/0333102414532379
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- Publication type:
- Article
The use of ketogenic diets in children living with drug‐resistant epilepsy, glucose transporter 1 deficiency syndrome and pyruvate dehydrogenase deficiency: A scoping review.
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- Journal of Human Nutrition & Dietetics, 2024, v. 37, n. 4, p. 827, doi. 10.1111/jhn.13324
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- Article
Electroclinical features of a patient with GLUT1 deficiency syndrome and adult onset periodic weakness.
- Published in:
- 2016
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- Publication type:
- Case Study
Crystal structure of the human glucose transporter GLUT1.
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- Nature, 2014, v. 510, n. 7503, p. 121, doi. 10.1038/nature13306
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- Publication type:
- Article
Transcript levels of class I GLUTs within individual tissues and the direct relationship between GLUT1 expression and glucose metabolism in Atlantic cod ( Gadus morhua).
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- Journal of Comparative Physiology B: Biochemical, Systemic & Environmental Physiology, 2014, v. 184, n. 4, p. 483, doi. 10.1007/s00360-014-0810-7
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- Article
Molecular Structure, Biochemical Functions, Genetics, and Emerging Clinical Relevance of Glucose Transporters.
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- Global Journal of Medical Pharmaceutical & Biomedical Update, 2023, v. 18, p. 1, doi. 10.25259/GJMPBU_56_2023
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- Publication type:
- Article
GLUT1-mediated magnetic liposomes for targeting bone metastatic breast cancer.
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- European Journal of Gynaecological Oncology, 2023, v. 44, n. 1, p. 98, doi. 10.22514/ejgo.2023.012
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- Publication type:
- Article
Characteristic proton magnetic resonance spectroscopy in glucose transporter type 1 deficiency syndrome.
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- Pediatrics International, 2018, v. 60, n. 10, p. 978, doi. 10.1111/ped.13672
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- Publication type:
- Article
Long-Term Effect of GPi-DBS in a Patient With Generalized Dystonia Due to GLUT1 Deficiency Syndrome.
- Published in:
- 2018
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- Publication type:
- Case Study
Glucose-Coated Superparamagnetic Iron Oxide Nanoparticles Prepared by Metal Vapour Synthesis Are Electively Internalized in a Pancreatic Adenocarcinoma Cell Line Expressing GLUT1 Transporter.
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- PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0123159
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- Article
A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome.
- Published in:
- 2017
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- Publication type:
- journal article
Glucose transporter type 1 deficiency syndrome: Developmental delay and early-onset ataxia in a novel mutation of the SLC2A1 gene.
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- Journal of Pediatric Neurosciences, 2018, v. 13, n. 4, p. 496, doi. 10.4103/JPN.JPN_169_17
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- Publication type:
- Article
Rare and Treatable Cause of Early-Onset Refractory Absence Seizures.
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- Journal of Pediatric Neurosciences, 2018, v. 13, n. 3, p. 358, doi. 10.4103/jpn.JPN_146_17
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- Publication type:
- Article
Actual insights into treatable inborn errors of metabolism causing epilepsy.
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- Journal of Pediatric Neurosciences, 2018, v. 13, n. 1, p. 13, doi. 10.4103/JPN.JPN_160_16
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- Publication type:
- Article
Unusual phenotype of glucose transport protein type 1 deficiency syndrome: A case report and literature review.
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- Journal of Pediatric Neurosciences, 2014, v. 9, n. 1, p. 36, doi. 10.4103/1817-1745.131481
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- Publication type:
- Article
N‑Myc downstream‑regulated gene 2 restrains glycolysis and glutaminolysis in clear cell renal cell carcinoma.
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- Oncology Letters, 2017, v. 14, n. 6, p. 6881, doi. 10.3892/ol.2017.7024
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- Publication type:
- Article
Expression of glucose transporter-1 is correlated with hypoxia-inducible factor 1α and malignant potential in pancreatic neuroendocrine tumors.
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- Oncology Letters, 2016, v. 12, n. 5, p. 3337, doi. 10.3892/ol.2016.5092
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- Publication type:
- Article
Specific protein 1 depletion attenuates glucose uptake and proliferation of human glioma cells by regulating GLUT3 expression.
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- Oncology Letters, 2016, v. 12, n. 1, p. 125, doi. 10.3892/ol.2016.4599
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- Publication type:
- Article
Somatic mosaicism for a SLC2A1 mutation: implications for genetic counseling for GLUT1 deficiency syndrome.
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- Clinical Genetics, 2017, v. 91, n. 6, p. 932, doi. 10.1111/cge.12902
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- Article
Analysis of Gait Disturbance in Glut 1 Deficiency Syndrome.
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- Journal of Child Neurology, 2016, v. 31, n. 13, p. 1483, doi. 10.1177/0883073816661662
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- Publication type:
- Article
Atypical Manifestations in Glut1 Deficiency Syndrome.
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- Journal of Child Neurology, 2016, v. 31, n. 9, p. 1174, doi. 10.1177/0883073816650033
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- Publication type:
- Article
Long-Term Clinical Course of Glut1 Deficiency Syndrome.
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- Journal of Child Neurology, 2015, v. 30, n. 2, p. 160, doi. 10.1177/0883073814531822
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- Publication type:
- Article
Heptanoate as a neural fuel: energetic and neurotransmitter precursors in normal and glucose transporter I-deficient (G1D) brain.
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- Journal of Cerebral Blood Flow & Metabolism, 2013, v. 33, n. 2, p. 175, doi. 10.1038/jcbfm.2012.151
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- Publication type:
- Article
Aminoglucose-functionalized, redox-responsive polymer nanomicelles for overcoming chemoresistance in lung cancer cells.
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- Journal of Nanobiotechnology, 2017, v. 15, p. 1, doi. 10.1186/s12951-017-0316-z
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- Article
A Sweet Cause of Toddlers With Absence Seizures.
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- Epilepsy Currents, 2013, v. 13, n. 3, p. 146, doi. 10.5698/1535-7511-13.3.146
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- Publication type:
- Article
A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C.
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- Balkan Medical Journal, 2017, v. 34, n. 6, p. 580, doi. 10.4274/balkanmedj.2016.1376
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- Article
Glucose transporter 1 deficiency syndrome and hemiplegic migraines as a dominant presenting clinical feature.
- Published in:
- 2014
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- Publication type:
- Other
Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet.
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- PLoS ONE, 2017, v. 12, n. 9, p. 1, doi. 10.1371/journal.pone.0184022
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- Publication type:
- Article
Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches.
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- International Journal of Molecular Sciences, 2017, v. 18, n. 7, p. 1384, doi. 10.3390/ijms18071384
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- Publication type:
- Article
Diagnostic Biomarkers in Oral Verrucous Carcinoma: A Systematic Review.
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- Pathology & Oncology Research, 2017, v. 23, n. 1, p. 19, doi. 10.1007/s12253-016-0150-x
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- Publication type:
- Article
Why should a neuropaediatrician always measure head circumference - a case report of Glucose transporter 1 deficiency syndrome (Glut1-DS).
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- Child Neurology / Neurologia Dziecięca, 2020, v. 29, n. 58, p. 89, doi. 10.20966/chn.2020.58.464
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- Publication type:
- Article
Paroxysmal Nonepileptic Events in Glut1 Deficiency.
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- Movement Disorders Clinical Practice, 2016, v. 3, n. 6, p. 607, doi. 10.1002/mdc3.12387
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- Publication type:
- Article
Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet Clinic.
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- Canadian Journal of Neurological Sciences, 2018, v. 45, n. 1, p. 93, doi. 10.1017/cjn.2017.246
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- Publication type:
- Article
Use of Remote Monitoring by E-mail for Long-Term Management of the Classic Ketogenic Diet.
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- Nutrients, 2020, v. 12, n. 6, p. 1833, doi. 10.3390/nu12061833
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- Article
Quality of Life in Chronic Ketogenic Diet Treatment: The GLUT1DS Population Perspective.
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- Nutrients, 2019, v. 11, n. 7, p. 1650, doi. 10.3390/nu11071650
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- Publication type:
- Article
Impact of the Ketogenic Diet on Linear Growth in Children: A Single-Center Retrospective Analysis of 34 Cases.
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- Nutrients, 2019, v. 11, n. 7, p. 1442, doi. 10.3390/nu11071442
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- Publication type:
- Article
Glucose Transporter Type 1 Deficiency Syndrome: A Single-Center Case Series.
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- Turkish Journal of Neurology / Turk Noroloji Dergisi, 2021, v. 17, n. 3, p. 343, doi. 10.4274/tnd.2021.12979
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- Publication type:
- Article
Timing of Ketogenic Dietary Therapy (KDT) Introduction and Its Impact on Cognitive Profiles in Children with Glut1-DS—A Preliminary Study.
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- Children, 2023, v. 10, n. 4, p. 681, doi. 10.3390/children10040681
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- Publication type:
- Article
Comparison of <sup>18</sup>F-Fluorodeoxyglucose Uptake with the Expressions of Glucose Transporter Type 1 and Na<sup> +</sup>/I<sup> −</sup> Symporter in Patients with Untreated Papillary Thyroid Carcinoma.
- Published in:
- Endocrine Research, 2013, v. 38, n. 2, p. 77, doi. 10.3109/07435800.2012.713426
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- Publication type:
- Article
Dietary management and access to treatment for patients with glucose deficiency syndrome type 1: an overview review with focus on the European regulatory framework.
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- European Journal of Clinical Nutrition, 2024, v. 78, n. 12, p. 1058, doi. 10.1038/s41430-024-01490-0
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- Publication type:
- Article
A Novel ceRNET Relying on the lncRNA JPX, miR-378a-3p, and Its mRNA Targets in Lung Cancer.
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- Cancers, 2024, v. 16, n. 8, p. 1526, doi. 10.3390/cancers16081526
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- Publication type:
- Article