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: 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: 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

المؤلفون: Leen, W.G. (Wilhelmina), Klepper, J. (Joerg), Verbeek, M.M. (Marcel), Leferink, M. (Maike), Hofste, T. (Tom), Engelen, B.G.M. (Baziel) van, Wevers, R.A. (Ron), Arthur, T. (Todd), Bahi-Buisson, N. (Nadia), Ballhausen, D. (Diana), Bekhof, J. (Jolita), Bogaert, P. (Patrick) van, Carrilho, I. (Inês), Chabrol, B. (Brigitte), Champion, M.P. (Michael), Coldwell, J. (James), Clayton, P. (Peter), Donner, E. (Elizabeth), Evangeliou, A. (Athanasios), Ebinger, F. (Friedrich), Farrell, K. (Kevin), Forsyth, R.J. (Rob), Goede, C.G.E.L. (Christian) de, Gross, S. (Stephanie), Grünewald, S. (Sonja), Holthausen, H. (Hans), Jayawant, S. (Sandeep), Lachlan, K. (Katherine), Laugel, V. (Vincent), Leppig, K. (Kathy), Lim, M.J. (Ming), Mancini, G.M.S. (Grazia), Marina, A.D., Martorell, L. (Loreto), McMenamin, J. (Joe), Meuwissen, M.E.C. (Marije), Mundy, H. (Helen), Nilsson, N.O. (Nils), Panzer, A. (Axel), Poll-The, B.T., Rauscher, C. (Christian), Rouselle, C.M.R. (Christophe), Sandvig, I. (Inger), Scheffner, T. (Thomas), Sheridan, E. (Eamonn), Simpson, N. (Neil), Sykora, P. (Parol), Tomlinson, R. (Richard), Trounce, J. (John), Webb, D.W.M. (David), Weschke, B. (Bernhard), Scheffer, H. (Hans), Willemsen, M.A. (Michél)

المصدر: Brain: a journal of neurology vol. 133 no. 3, pp. 655-670

مصطلحات موضوعية: Cerebrospinal fluid, GLUT1 deficiency syndrome, Ketogenic diet, Phenotype, SLC2A1 gene

العلاقة: http://repub.eur.nl/pub/27314Test; urn:hdl:1765/27314

الإتاحة: https://doi.org/10.1093/brain/awp336Test
http://repub.eur.nl/pub/27314Test

المؤلفون: Yubero, Delia, O’Callaghan, Mar, Montero, Raquel, Ormazabal, Aida, Armstrong, Judith, Espinos, Carmina, Rodríguez, Maria A, Jou, Cristina, Castejon, Esperanza, Aracil, Maria A, Cascajo, Maria V, Gavilan, Angela, Briones, Paz, Jimenez-Mallebrera, Cecilia, Pineda, Mercedes, Navas, Plácido, Artuch, Rafael

مصطلحات موضوعية: Glucose transporter type I deficiency, SLC2A1 gene, Coenzyme Q10, Ataxia, Ketogenic diet

العلاقة: http://www.biomedcentral.com/1471-2431/14/284Test

الإتاحة: http://www.biomedcentral.com/1471-2431/14/284Test

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