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1دورية أكاديمية
المؤلفون: Qingqing Hu, Yuechi Shen, Tangfeng Su, Yan Liu, Sanqing Xu
المصدر: Frontiers in Genetics, Vol 12 (2021)
مصطلحات موضوعية: GLUT1 deficiency syndrome, epilepsy, developmental delay, movement disorders, SLC2A1 gene, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.734481/fullTest; https://doaj.org/toc/1664-8021Test
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2دورية أكاديمية
المؤلفون: Jana Ruiz Herrero, Elvira Cañedo Villarroya, Luis González Gutiérrez-Solana, Beatriz García Alcolea, Begoña Gómez Fernández, Laura Andrea Puerta Macfarland, Consuelo Pedrón-Giner
المصدر: Nutrients; Volume 13; Issue 3; Pages: 840
مصطلحات موضوعية: GLUT1 deficiency syndrome, SLC2A1 gene, ketogenic diet, pediatric epilepsy, refractory epilepsy, movement disorder
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Clinical Nutrition; https://dx.doi.org/10.3390/nu13030840Test
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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 -
4دورية أكاديمية
المصدر: Pediatric Neurology Briefs, Vol 29, Iss 2 (2015)
مصطلحات موضوعية: epilepsy, glut1 deficiency syndrome, ketogenic diet, paroxysmal exercise-induced dyskinesia, slc2a1 gene, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://www.pediatricneurologybriefs.com/articles/39Test; https://doaj.org/toc/1043-3155Test; https://doaj.org/toc/2166-6482Test
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5دورية أكاديمية
المصدر: ISSN: 1043-3155 ; Pediatric neurology briefs, vol. 29, no. 2 (2015) 14.
مصطلحات موضوعية: info:eu-repo/classification/ddc/618, Epilepsy, GLUT1 deficiency syndrome, Ketogenic diet, Paroxysmal exercise-induced dyskinesia, SLC2A1 gene
العلاقة: https://archive-ouverte.unige.ch/unige:83790Test; unige:83790
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6دورية أكاديمية
المصدر: Pediatric Neurology Briefs; Vol 29, No 02 | Feb 2015; 14 ; 2166-6482 ; 1043-3155 ; 10.15844/pedneurbriefs-29-2
مصطلحات موضوعية: Epilepsy, GLUT1 deficiency syndrome, Ketogenic diet, Paroxysmal exercise-induced dyskinesia, SLC2A1 gene
وصف الملف: application/xml; application/pdf
العلاقة: https://account.pediatricneurologybriefs.com/index.php/up-j-pnb/article/view/pedneurbriefs-29-2-5/71Test; https://account.pediatricneurologybriefs.com/index.php/up-j-pnb/article/view/pedneurbriefs-29-2-5/64Test; https://account.pediatricneurologybriefs.com/index.php/up-j-pnb/article/view/pedneurbriefs-29-2-5Test
الإتاحة: https://doi.org/10.15844/pedneurbriefs-29-2-5Test
https://doi.org/10.15844/pedneurbriefs-29-2Test
https://account.pediatricneurologybriefs.com/index.php/up-j-pnb/article/view/pedneurbriefs-29-2-5Test -
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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 -
8دورية أكاديمية
المؤلفون: V. De Giorgis, P. Veggiotti
المساهمون: V. De Giorgi, P. Veggiotti
مصطلحات موضوعية: GLUT1DS, Epilepsy, Movement disorder, Lumbar puncture, SLC2A1 gene, Ketogenic diet, Settore MED/39 - Neuropsichiatria Infantile
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23890838; info:eu-repo/semantics/altIdentifier/wos/WOS:000327687300001; volume:22; issue:10; firstpage:803; lastpage:811; numberofpages:9; journal:SEIZURE; http://hdl.handle.net/2434/668023Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84888201220
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9دورية أكاديمية
المؤلفون: S. Agostinellia, M. Traversob, P. Accorsic, F. Beccaria, V. Belcastroe, G. Capovillad, S. Cappaneraf, A. Coppolag, B. D. Bernardinah, F. Darrah, M. Ferrettib, M. Eliai, D. Galeonej, L. Giordanoc, G. Gobbik, F. Nicital, P. Parisim, M. Pezzellab, A. Spalicen, S. Strianog, E. Tozzio, C. Minetti, F. Zara, P. Sranio, A. Verrotti, A. Vignoli
المساهمون: S. Agostinellia, M. Traversob, P. Accorsic, F. Beccaria, V. Belcastroe, G. Capovillad, S. Cappaneraf, A. Coppolag, B.D. Bernardinah, F. Darrah, M. Ferrettib, M. Eliai, D. Galeonej, L. Giordanoc, G. Gobbik, F. Nicital, P. Parisim, M. Pezzellab, A. Spalicen, S. Strianog, E. Tozzio, A. Vignoli, C. Minetti, F. Zara, P. Sranio, A. Verrotti
مصطلحات موضوعية: Early-onset absence epilepsy, GLUT-1 deficiency syndrome, SLC2A1 gene, Settore MED/39 - Neuropsichiatria Infantile
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23020086; info:eu-repo/semantics/altIdentifier/wos/WOS:000317609800024; volume:20; issue:5; firstpage:856; lastpage:859; numberofpages:4; journal:EUROPEAN JOURNAL OF NEUROLOGY; http://hdl.handle.net/2434/223179Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84876344842
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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