葡萄糖转运蛋白1缺乏综合征与生酮饮食疗法：罕见但可治疗的疾病被忽视了吗？ - Suppr

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GLUT1 deficiency syndrome and ketogenic diet therapies: missing rare but treatable diseases?

作者信息

Klepper Joerg

机构信息

Department of Pediatrics, Klinikum Aschaffenburg, Aschaffenburg, Germany.

出版信息

Dev Med Child Neurol. 2015 Oct;57(10):896-7. doi: 10.1111/dmcn.12807. Epub 2015 May 22.

DOI:10.1111/dmcn.12807

PMID:25997718

Abstract

摘要

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相似文献

GLUT1 deficiency syndrome and ketogenic diet therapies: missing rare but treatable diseases?

Dev Med Child Neurol. 2015 Oct;57(10):896-7. doi: 10.1111/dmcn.12807. Epub 2015 May 22.

Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet Clinic.

Can J Neurol Sci. 2018 Jan;45(1):93-96. doi: 10.1017/cjn.2017.246. Epub 2017 Nov 16.

Favourable response to ketogenic dietary therapies: undiagnosed glucose 1 transporter deficiency syndrome is only one factor.

Dev Med Child Neurol. 2015 Oct;57(10):969-76. doi: 10.1111/dmcn.12781. Epub 2015 Apr 23.

The glucose transporter type 1 (Glut1) syndromes.

Epilepsy Behav. 2019 Feb;91:90-93. doi: 10.1016/j.yebeh.2018.06.010. Epub 2018 Jul 31.

[GLUT-1 deficiency syndrome].

Rev Neurol. 2019 Aug 16;69(4):178-179. doi: 10.33588/rn.6904.2019126.

Glut1 deficiency is a rare but treatable cause of childhood absence epilepsy with atypical features.

Epilepsy Res. 2019 Aug;154:39-41. doi: 10.1016/j.eplepsyres.2019.04.003. Epub 2019 Apr 21.

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Occurrence of GLUT1 deficiency syndrome in patients treated with ketogenic diet.

Epilepsy Behav. 2014 Mar;32:76-8. doi: 10.1016/j.yebeh.2014.01.003. Epub 2014 Feb 6.

Another Case of Glucose Transporter 1 Deficiency Syndrome with Periventricular Calcification, Cataracts, Hemolysis, and Pseudohyperkalemia.

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Seizure. 2015 Jan;24:28-32. doi: 10.1016/j.seizure.2014.11.009. Epub 2014 Nov 26.

引用本文的文献

Optimal clinical management of children receiving ketogenic parenteral nutrition: a clinical practice guide.

Dev Med Child Neurol. 2020 Jan;62(1):48-56. doi: 10.1111/dmcn.14306. Epub 2019 Jul 16.

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