Glucose transporter type 1 deficiency syndrome (GLUT1-DS) – delayed diagnosis and treatment. A case report

Glucose transporter type 1 deficiency syndrome (GLUT1-DS) – delayed diagnosis and treatment. A case report

Bibliographic Details
Main Authors: Piotr Bogucki, Ewa Nagańska, Marta Jurek, Dorota Hoffman-Zacharska, Anna Kutkowska-Kaźmierczak, Ewa Obersztyn, Urszula Fiszer
Format: Article
Language:English
Published: Exeley Inc. 2019-03-01
Series:Journal of Epileptology
Subjects:
GLUT-1 deficiency
ketogenic diet
epilepsy
dystonia
Online Access:https://www.exeley.com/exeley/journals/journal_of_epileptology/27/i_current/pdf/10.21307_jepil-2019-006.pdf
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spelling doaj-3b38366b81674ecc9d3e78a7ca84be852020-11-25T01:48:01ZengExeley Inc.Journal of Epileptology2300-01472019-03-0127i_current10.21307/jepil-2019-006Glucose transporter type 1 deficiency syndrome (GLUT1-DS) – delayed diagnosis and treatment. A case reportPiotr Bogucki0Ewa Nagańska1Marta Jurek2Dorota Hoffman-Zacharska3Anna Kutkowska-Kaźmierczak4Ewa Obersztyn5Urszula Fiszer6Department of Neurology and Epileptology, Centre of Postgraduate Medical Education, Warsaw, Poland1Department of Neurology and Epileptology, Centre of Postgraduate Medical Education, Warsaw, Poland2Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland1Department of Neurology and Epileptology, Centre of Postgraduate Medical Education, Warsaw, Poland2Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland2Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland1Department of Neurology and Epileptology, Centre of Postgraduate Medical Education, Warsaw, Polandhttps://www.exeley.com/exeley/journals/journal_of_epileptology/27/i_current/pdf/10.21307_jepil-2019-006.pdfGLUT-1 deficiencyketogenic dietepilepsydystonia
collection DOAJ
language English
format Article
sources DOAJ
author Piotr Bogucki
Ewa Nagańska
Marta Jurek
Dorota Hoffman-Zacharska
Anna Kutkowska-Kaźmierczak
Ewa Obersztyn
Urszula Fiszer
spellingShingle Piotr Bogucki
Ewa Nagańska
Marta Jurek
Dorota Hoffman-Zacharska
Anna Kutkowska-Kaźmierczak
Ewa Obersztyn
Urszula Fiszer
Glucose transporter type 1 deficiency syndrome (GLUT1-DS) – delayed diagnosis and treatment. A case report
Journal of Epileptology
GLUT-1 deficiency
ketogenic diet
epilepsy
dystonia
author_facet Piotr Bogucki
Ewa Nagańska
Marta Jurek
Dorota Hoffman-Zacharska
Anna Kutkowska-Kaźmierczak
Ewa Obersztyn
Urszula Fiszer
author_sort Piotr Bogucki
title Glucose transporter type 1 deficiency syndrome (GLUT1-DS) – delayed diagnosis and treatment. A case report
title_short Glucose transporter type 1 deficiency syndrome (GLUT1-DS) – delayed diagnosis and treatment. A case report
title_full Glucose transporter type 1 deficiency syndrome (GLUT1-DS) – delayed diagnosis and treatment. A case report
title_fullStr Glucose transporter type 1 deficiency syndrome (GLUT1-DS) – delayed diagnosis and treatment. A case report
title_full_unstemmed Glucose transporter type 1 deficiency syndrome (GLUT1-DS) – delayed diagnosis and treatment. A case report
title_sort glucose transporter type 1 deficiency syndrome (glut1-ds) – delayed diagnosis and treatment. a case report
publisher Exeley Inc.
series Journal of Epileptology
issn 2300-0147
publishDate 2019-03-01
topic GLUT-1 deficiency
ketogenic diet
epilepsy
dystonia
url https://www.exeley.com/exeley/journals/journal_of_epileptology/27/i_current/pdf/10.21307_jepil-2019-006.pdf
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AT dorotahoffmanzacharska glucosetransportertype1deficiencysyndromeglut1dsdelayeddiagnosisandtreatmentacasereport
AT annakutkowskakazmierczak glucosetransportertype1deficiencysyndromeglut1dsdelayeddiagnosisandtreatmentacasereport
AT ewaobersztyn glucosetransportertype1deficiencysyndromeglut1dsdelayeddiagnosisandtreatmentacasereport
AT urszulafiszer glucosetransportertype1deficiencysyndromeglut1dsdelayeddiagnosisandtreatmentacasereport
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