المؤلفون: De Giorgis, Valentina, Bhatia, Kailash P, Boespflug-Tanguy, Odile, Gras, Domitille, Marina, Adela Della, Desurkar, Archana, Toledo, Manuel, Miller, Ian, Rotstein, Michael, Schneider, Susanne A, Tarquinio, Daniel C, Weber, Yvonne, Brandabur, Melanie, Mayhew, Jill, Koutsoukos, Tony, De Vivo, Darryl C

المصدر: Movement Disorders (2024) (In press).

مصطلحات موضوعية: UX007, glucose transporter type 1 deficiency syndrome, paroxysmal movement disorder, phase 3, triheptanoin

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10192415Test/1/Triheptanoin%20Did%20Not%20Show%20Benefit%20versus%20Placebo%20for%20the%20Treatment%20of%20Paroxysmal.pdf; https://discovery.ucl.ac.uk/id/eprint/10192415Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10192415Test/1/Triheptanoin%20Did%20Not%20Show%20Benefit%20versus%20Placebo%20for%20the%20Treatment%20of%20Paroxysmal.pdf
https://discovery.ucl.ac.uk/id/eprint/10192415Test/

المؤلفون: Jana Ruiz Herrero, Elvira Cañedo Villarroya, Juan José García Peñas, Beatriz García Alcolea, Begoña Gómez Fernández, Laura Andrea Puerta Macfarland, Consuelo Pedrón-Giner

المصدر: Anales de Pediatría, Vol 96, Iss 6, Pp 511-522 (2022)

مصطلحات موضوعية: Ketogenic diet, Pediatric epilepsy, Refractory epilepsy, Glucose transporter type 1 deficiency syndrome, Growth, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S1695403321001934Test; https://doaj.org/toc/1695-4033Test

الوصول الحر: https://doaj.org/article/31e95c6d50a54c93b7e1c0383ead2e98Test

المؤلفون: Miraç Yıldırım, Ömür Babayiğit, Fatma Ilgaz, Dilek Yalnızoğlu, Meral Topçu

المصدر: Türk Nöroloji Dergisi, Vol 27, Iss 3, Pp 343-346 (2021)

مصطلحات موضوعية: glucose transporter type 1 deficiency syndrome, ataxia, slc2a1, ketogenic diet, Medicine, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://tjn.org.tr/jvi.aspx?pdir=tjn&plng=eng&un=TJN-12979&look4Test=; https://doaj.org/toc/1309-2545Test

الوصول الحر: https://doaj.org/article/50712f2788414a648ab6c8ea2e7c25f4Test

المؤلفون: Zuhal Yapici, Pinar Topaloğlu, Cuneyt Turkmen, Mefkure Eraksoy, Sameer Zuberi

المصدر: Neurological Sciences and Neurophysiology, Vol 39, Iss 1, Pp 53-55 (2022)

مصطلحات موضوعية: glucose transporter type 1 deficiency syndrome, paroxysmal choreoathetosis, positron emission tomography, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: http://www.nsnjournal.org/article.asp?issn=2636-865X;year=2022;volume=39;issueTest=1;spage=53;epage=55;aulast=Yapici; https://doaj.org/toc/2636-865XTest

الوصول الحر: https://doaj.org/article/5dd6d87fad6f4987975ff864e8acc64eTest

المؤلفون: Weronika Pawlik, Patrycja Okulewicz, Jakub Pawlik, Elżbieta Krzywińska-Zdeb

المصدر: International Journal of Environmental Research and Public Health; Volume 19; Issue 6; Pages: 3279

مصطلحات موضوعية: glucose transporter type 1 deficiency syndrome, pediatrics, genetic disease, rare disease, neurology

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: https://dx.doi.org/10.3390/ijerph19063279Test

الإتاحة: https://doi.org/10.3390/ijerph19063279Test

المؤلفون: Good, J.M., Atallah, I., Castro Jimenez, M., Benninger, D., Kuntzer, T., Superti-Furga, A., Tran, C.

المصدر: Genes, vol. 12, no. 5, pp. 695

مصطلحات موضوعية: ATP Binding Cassette Transporter, Subfamily D, Member 1/genetics, Adrenoleukodystrophy/diagnosis, Adrenoleukodystrophy/genetics, Adult, Carbohydrate Metabolism, Inborn Errors/diagnosis, Inborn Errors/genetics, Cholestanetriol 26-Monooxygenase/genetics, Female, Genetic Testing/methods, Glucose Transporter Type 1/genetics, High-Throughput Nucleotide Sequencing/methods, Humans, Male, Middle Aged, Monosaccharide Transport Proteins/deficiency, Monosaccharide Transport Proteins/genetics, Sequence Analysis, DNA/methods, Xanthomatosis, Cerebrotendinous/diagnosis, Cerebrotendinous/genetics, X-linked adrenoleukodystrophy, cerebrotendinous xanthomatosis, glucose transporter type 1 deficiency syndrome, neurogenetic disorders, next-generation sequencing (NGS), treatable diseases

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34066437; info:eu-repo/semantics/altIdentifier/eissn/2073-4425; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_EF75CA328A1A1; https://serval.unil.ch/notice/serval:BIB_EF75CA328A1ATest; urn:issn:2073-4425; https://serval.unil.ch/resource/serval:BIB_EF75CA328A1A.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_EF75CA328A1A1Test

الإتاحة: https://doi.org/10.3390/genes12050695Test
https://serval.unil.ch/notice/serval:BIB_EF75CA328A1ATest
https://serval.unil.ch/resource/serval:BIB_EF75CA328A1A.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_EF75CA328A1A1Test

المؤلفون: Jean-Marc Good, Isis Atallah, Mayte Castro Jimenez, David Benninger, Thierry Kuntzer, Andrea Superti-Furga, Christel Tran

المصدر: Genes; Volume 12; Issue 5; Pages: 695

مصطلحات موضوعية: neurogenetic disorders, cerebrotendinous xanthomatosis, X-linked adrenoleukodystrophy, glucose transporter type 1 deficiency syndrome, treatable diseases, next-generation sequencing (NGS)

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12050695Test

الإتاحة: https://doi.org/10.3390/genes12050695Test

المؤلفون: Cinzia Ferraris, Monica Guglielmetti, Elisa Tamagni, Claudia Trentani, Valentina De Giorgis, Ludovica Pasca, Costanza Varesio, Ottavia Eleonora Ferraro, Anna Tagliabue

المصدر: Nutrients; Volume 12; Issue 6; Pages: 1833

مصطلحات موضوعية: ketogenic diet, drug-resistant epilepsy, glucose transporter type 1 deficiency syndrome, children, monitoring, home management, e-mail

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Clinical Nutrition; https://dx.doi.org/10.3390/nu12061833Test

الإتاحة: https://doi.org/10.3390/nu12061833Test

المؤلفون: Ferraris C., Guglielmetti M., Pasca L., De Giorgis V., Ferraro O. E., Brambilla I., Leone A., De Amicis R., Bertoli S., Veggiotti P., Tagliabue A.

المساهمون: Ferraris, C., Guglielmetti, M., Pasca, L., De Giorgis, V., Ferraro, O. E., Brambilla, I., Leone, A., De Amicis, R., Bertoli, S., Veggiotti, P., Tagliabue, A.

مصطلحات موضوعية: Children, Drug-resistant epilepsy, Glucose transporter type 1 deficiency syndrome, Growth, Ketogenic diet

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31247999; info:eu-repo/semantics/altIdentifier/wos/WOS:000478885400225; volume:11; issue:7; firstpage:1442; numberofpages:12; journal:NUTRIENTS; http://hdl.handle.net/11571/1288268Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85068533339; https://www.mdpi.com/2072-6643/11/7/1442/pdfTest

الإتاحة: https://doi.org/10.3390/nu11071442Test
http://hdl.handle.net/11571/1288268Test
https://www.mdpi.com/2072-6643/11/7/1442/pdfTest

المؤلفون: C. Ferraris, M. Guglielmetti, L. Pasca, V. De Giorgis, O. E. Ferraro, I. Brambilla, A. Leone, R. De Amicis, S. Bertoli, P. Veggiotti, A. Tagliabue

المساهمون: C. Ferrari, M. Guglielmetti, L. Pasca, V. De Giorgi, O.E. Ferraro, I. Brambilla, A. Leone, R. De Amici, S. Bertoli, P. Veggiotti, A. Tagliabue

مصطلحات موضوعية: children, drug-resistant epilepsy, glucose transporter type 1 deficiency syndrome, growth, ketogenic diet, Settore BIO/09 - Fisiologia, Settore MED/49 - Scienze Tecniche Dietetiche Applicate, Settore MED/39 - Neuropsichiatria Infantile

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31247999; info:eu-repo/semantics/altIdentifier/wos/WOS:000478885400225; volume:11; issue:7; numberofpages:12; journal:NUTRIENTS; http://hdl.handle.net/2434/652041Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85068533339

الإتاحة: https://doi.org/10.3390/nu11071442Test
http://hdl.handle.net/2434/652041Test