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

الوصول الحر: https://doaj.org/article/a76b2d250d0c40769e97dd5da5a4a8d2Test

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

الإتاحة: https://doi.org/10.3390/nu13030840Test

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

المؤلفون: Anastasia Martinez-Esteve Melnikova, Christian M Korff

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

الوصول الحر: https://doaj.org/article/e96e3bf147b04df0910c34144f56493bTest

المؤلفون: Martinez-Esteve Melnikova, Anastasia, Korff, Christian

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

الإتاحة: https://doi.org/10.15844/pedneurbriefs-29-2-5Test
https://archive-ouverte.unige.ch/unige:83790Test

المؤلفون: Melnikova, Anastasia Martinez-Esteve, Korff, Christian M

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

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 Barcelona

مصطلحات 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

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

الإتاحة: https://doi.org/10.1016/j.seizure.2013.07.003Test
http://hdl.handle.net/2434/668023Test

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

الإتاحة: https://doi.org/10.1111/j.1468-1331.2012.03871.xTest
http://hdl.handle.net/2434/223179Test

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