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: 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

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

المساهمون: Other departments, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ANS - Amsterdam Neuroscience, Paediatric Neurology, Neurology

المصدر: Brain, vol. 133, no. 3, pp. 655-670
Brain, 133, 655-70
Brain, 133, 655-670. Oxford University Press
Brain
Brain, 133(Part 3), 655-670. Oxford University Press
Brain, 133, Pt 3, pp. 655-70

مصطلحات موضوعية: Male, Movement disorders, Adolescent, Adult, Age of Onset, Carbohydrate Metabolism, Inborn Errors/diagnosis, Carbohydrate Metabolism, Inborn Errors/genetics, Child, Child, Preschool, Dyskinesias/diagnosis, Dyskinesias/genetics, Epilepsy/diagnosis, Epilepsy/genetics, Female, Glucose Transporter Type 1/deficiency, Glucose Transporter Type 1/genetics, Humans, Infant, Ketogenic Diet, Mental Retardation/diagnosis, Mental Retardation/genetics, Mutation, Phenotype, Retrospective Studies, Syndrome, Young Adult, FACILITATIVE GLUCOSE-TRANSPORTER, medicine.medical_treatment, GLUT1 deficiency syndrome, Medizin, SLC2A1 gene, Neuroinformatics [DCN 3], Epilepsy, Genotype, CYSTEINE-SCANNING MUTAGENESIS, Missense mutation, EPILEPSY, Glucose Transporter Type 1, ketogenic diet, medicine.symptom, Diet, Ketogenic, Functional Neurogenomics [DCN 2], Carbohydrate Metabolism, Inborn Errors, medicine.medical_specialty, phenotype, PROTEINS, SLC2A1, KETOGENIC-DIET, cerebrospinal fluid, INDUCED DYSKINESIAS, Genomic disorders and inherited multi-system disorders [IGMD 3], De Vivo disease, Intellectual Disability, Internal medicine, medicine, GLUT-1 DEFICIENCY, Dyskinesias, BLOOD-BRAIN-BARRIER, MUTATIONS, business.industry, Glucose transporter, medicine.disease, Endocrinology, Human medicine, Neurology (clinical), business, Ketogenic diet

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::baa23e89c1539e5d537691bf49ae6c1eTest
https://hdl.handle.net/2066/88466Test