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المؤلفون: Bader Shirah, Mohammad H. Al-Qahtani, Angham Abdulrahman Abdulkareem, Hussein Algahtani, Muhammad Imran Naseer, Ahmad Albarakaty
المصدر: Journal of Epilepsy Research. 10:40-43
مصطلحات موضوعية: Mutation, Deficiency syndrome, biology, business.industry, medicine.medical_treatment, 05 social sciences, Cerebral metabolism, medicine.disease, Bioinformatics, medicine.disease_cause, 050105 experimental psychology, 03 medical and health sciences, 0302 clinical medicine, Slc2a1 gene, medicine, biology.protein, Myoclonic epilepsy, 0501 psychology and cognitive sciences, GLUT1, business, Atonic seizure, 030217 neurology & neurosurgery, Ketogenic diet
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1a4cd9769a42fea6fad12b7159f3ec1dTest
https://doi.org/10.14581/jer.20007Test -
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المؤلفون: Stefanidis, I., Tziastoudi, M., Tsironi, E. E., Dardiotis, E., Tachmitzi, S. V., Fotiadou, A., Pissas, G., Kytoudis, K., Sounidaki, M., Ampatzis, G., Mertens, P. R., Liakopoulos, V., Eleftheriadis, T., Hadjigeorgiou, Georgios M., Santos, M., Zintzaras, E.
المساهمون: Hadjigeorgiou, Georgios M. [0000-0001-5386-4273], Dardiotis, E. [0000-0003-2957-641X]
المصدر: Renal Failure, Vol 40, Iss 1, Pp 561-576 (2018)
Renal Failure
Ren Fail
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelonaمصطلحات موضوعية: Male, 0301 basic medicine, Glucose transporter 1 (GLUT1), Diabetic nephropathy, Type 2 diabetes, Critical Care and Intensive Care Medicine, Bioinformatics, lcsh:RC870-923, Nephropathy, 03 medical and health sciences, Diabetes mellitus, Gene Frequency, Risk Factors, Slc2a1 gene, medicine, Humans, Diabetic Nephropathies, Genetic Predisposition to Disease, Gene, Alleles, Aged, genetic variants of SLC2A1, Aged, 80 and over, Glucose Transporter Type 1, business.industry, glucose transporter 1 (GLUT1), diabetic nephropathy, Glucose transporter, Genetic Variation, Genetic variants of SLC2A1, General Medicine, Middle Aged, medicine.disease, lcsh:Diseases of the genitourinary system. Urology, Logistic Models, 030104 developmental biology, Diabetes Mellitus, Type 2, Nephrology, Case-Control Studies, Meta-analysis, Clinical Study, Female, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4aea48d351d56788471e88bf015c05dTest
https://doaj.org/article/8c721f3a8a2148349bdbb7e5393a6542Test -
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المؤلفون: Antonella Pini, Antonella Boni, Margherita Santucci, Angelo Russo, Raffaella Vergaro, Tullio Messana
المساهمون: Messana T., Russo A., Vergaro R., Boni A., Santucci M., Pini A.
المصدر: Journal of Pediatric Neurosciences
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Microcephaly, Ataxia, medicine.medical_treatment, SLC2A1 gene, Case Report, 030105 genetics & heredity, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Internal medicine, Medicine, business.industry, General Neuroscience, Glucose transporter, medicine.disease, Hypotonia, Endocrinology, Inborn error of metabolism, ketogenic diet, Pediatrics, Perinatology and Child Health, Glucose transporter type 1 deficiency syndrome, movement disorder, medicine.symptom, business, 030217 neurology & neurosurgery, Glucose Transporter Type 1, Ketogenic diet
وصف الملف: STAMPA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc2d805029388c1d3e7d5185e681ad08Test
http://europepmc.org/articles/PMC6413611Test -
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المؤلفون: Luis González Gutiérrez-Solana, Begoña Gómez Fernández, Elvira Cañedo Villarroya, Jana Ruiz Herrero, C. Pedrón-Giner, Laura Andrea Puerta Macfarland, Beatriz García Alcolea
المصدر: Nutrients
Volume 13
Issue 3
Nutrients, Vol 13, Iss 840, p 840 (2021)مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Constipation, Movement disorders, Monosaccharide Transport Proteins, food.diet, medicine.medical_treatment, GLUT1 deficiency syndrome, SLC2A1 gene, lcsh:TX341-641, Single Center, Article, 03 medical and health sciences, 0302 clinical medicine, food, Seizures, medicine, Humans, pediatric epilepsy, Hypercalciuria, Child, Glucose Transporter Type 1, Atkins diet, Movement Disorders, 030109 nutrition & dietetics, Nutrition and Dietetics, business.industry, Infant, refractory epilepsy, Anthropometry, medicine.disease, Treatment Outcome, ketogenic diet, Child, Preschool, Mutation, Cohort, Female, movement disorder, medicine.symptom, Diet, Ketogenic, business, lcsh:Nutrition. Foods and food supply, Diet, High-Protein Low-Carbohydrate, 030217 neurology & neurosurgery, Carbohydrate Metabolism, Inborn Errors, Food Science, Ketogenic diet
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9af4c337072c9ea692bfb341bcad2890Test
https://doi.org/10.3390/nu13030840Test -
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المؤلفون: Juan M. Pascual, John Kitchens, Ramiro S. Maldonado, Matt Henry
المصدر: Neurology Genetics. 6:e472
مصطلحات موضوعية: 0301 basic medicine, Oncology, medicine.medical_specialty, Deficiency syndrome, 03 medical and health sciences, Epilepsy, chemistry.chemical_compound, 0302 clinical medicine, Slc2a1 gene, Internal medicine, medicine, Genetics (clinical), Fluorodeoxyglucose, biology, business.industry, Retinal, medicine.disease, 030104 developmental biology, chemistry, biology.protein, GLUT1, Neurology (clinical), business, 030217 neurology & neurosurgery, Glucose Transporter Type 1, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d68abdce7516a7c7aa00158172fef6beTest
https://doi.org/10.1212/nxg.0000000000000472Test -
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المؤلفون: Claudia M Weller, Joost Haan, Hans Scheffer, Arn M. J. M. van den Maagdenberg, Michèl A.A.P. Willemsen, Boukje de Vries, Gisela M. Terwindt, Michel D. Ferrari, Brian G. R. Neville, Erik-Jan Kamsteeg, John S. Duncan, Wilhelmina G. Leen, Marije A Geilenkirchen
المصدر: Cephalalgia, 35, 1, pp. 10-5
Cephalalgia, 35(1), 10-15
Cephalalgia, 35, 10-5مصطلحات موضوعية: Adult, Pediatrics, medicine.medical_specialty, Adolescent, Hemiplegic migraine (HM), DNA Mutational Analysis, Migraine with Aura, GLUT1 deficiency syndrome, SLC2A1 gene, Hemiplegia, Gene mutation, medicine.disease_cause, Young Adult, ATP1A2, ATP1A3, Humans, Medicine, Age of Onset, Child, Sensory disorders Radboud Institute for Molecular Life Sciences [Radboudumc 12], Episodic ataxia, exercise-induced dystonia, Glucose Transporter Type 1, Mutation, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], business.industry, Alternating hemiplegia of childhood, alternating hemiplegia of childhood (AHC), General Medicine, Paroxysmal dyskinesia, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Migraine, Female, Neurology (clinical), business, Multiplex Polymerase Chain Reaction, Neuroscience
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5fc6345540dfa2fc193d0b798a56baeTest
https://hdl.handle.net/2066/155256Test -
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المصدر: Pediatric Neurology Briefs
Pediatric Neurology Briefs, Vol 29, Iss 2 (2015)
Pediatric Neurology Briefs, Vol. 29, No 2 (2015) P. 14مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Deficiency syndrome, medicine.medical_treatment, GLUT1 deficiency syndrome, Neurosurgery, SLC2A1 gene, Epilepsy, Child Development, Paroxysmal exercise-induced dyskinesia, Slc2a1 gene, Seizure Disorders, medicine, Child, Brain Diseases, ddc:618, business.industry, lcsh:RJ1-570, Infant, lcsh:Pediatrics, Ketogenic diet, medicine.disease, Institutional repository, Neurology, Nervous System Diseases, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ada917955d1ee6a57743233e309a817aTest
https://pubmed.ncbi.nlm.nih.gov/26933557Test -
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المؤلفون: Hatice Nilgün Selçuk-Duru, Murat Elevli, Mehmet Ali Duman, Halil Uğur Hatipoğlu, Ala Üstyol, Satoru Takahashi
المصدر: The Turkish Journal of Pediatrics. 61:946
مصطلحات موضوعية: Microcephaly, Deficiency syndrome, business.industry, Bioinformatics, medicine.disease, Phenotype, Slc2a1 gene, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), medicine, Spasticity, medicine.symptom, Young adult, business, Novel mutation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::74b296bbec552aeb67a5dfdb89d1fab1Test
https://doi.org/10.24953/turkjped.2019.06.018Test -
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المؤلفون: Joannie Hui, John Wong, Joerg Klepper, Eva Lai-Wah Fung, Tzi Bun Ng, Yuan Yuan Ho, Nga-Yin Fion Fong, Kwok-Wing Stephen Tsui
المصدر: Brain and Development. 33:170-173
مصطلحات موضوعية: Blood Glucose, Male, Ataxia, Deficiency syndrome, Adolescent, Monosaccharide Transport Proteins, medicine.medical_treatment, DNA Mutational Analysis, Bioinformatics, Epilepsy, Asian People, Developmental Neuroscience, Slc2a1 gene, medicine, Humans, Genetics, Glucose Transporter Type 1, Guanosine, business.industry, General Medicine, medicine.disease, Glucose, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), 3-o-methyl-d-glucose, medicine.symptom, Diet, Ketogenic, business, Novel mutation, Carbohydrate Metabolism, Inborn Errors, Ketogenic diet
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46c7da6302c652341fe5ea280f8c77e6Test
https://doi.org/10.1016/j.braindev.2010.03.009Test -
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المصدر: Epilepsy & Behavior. 32:76-78
مصطلحات موضوعية: Male, medicine.medical_specialty, Deficiency syndrome, Monosaccharide Transport Proteins, medicine.medical_treatment, food.diet, Gastroenterology, Diet, Carbohydrate-Restricted, Behavioral Neuroscience, Epilepsy, food, Seizures, Internal medicine, Slc2a1 gene, medicine, Humans, In patient, Child, Glucose Transporter Type 1, Atkins diet, Seizure frequency, business.industry, Glucose transporter, medicine.disease, Diet, Glucose, Treatment Outcome, Endocrinology, Neurology, Blood-Brain Barrier, Mutation, Female, Neurology (clinical), Diet, Ketogenic, business, Carbohydrate Metabolism, Inborn Errors, Ketogenic diet
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::836689819d6a6f2462184278c6b946aeTest
https://doi.org/10.1016/j.yebeh.2014.01.003Test
