Glucose transporter deficiency syndrome type 1: a case report

Glucose transporter deficiency syndrome type 1: a case report

The authors present a unique clinical observation of the case of a hereditary deficiency of a type 1 glucose transporter, also called de Vivo disease. The type 1 glucose transporter deficiency syndrome (OMIM: 606777, ORPHA: 71277) is an extremely rare genetic disease associated with mutations in the...

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Bibliographic Details
Main Authors: E. A. Kulish, A. S. Kotov, E. V. Mukhina, Y. Y. Kotalevskaya, D. V. Svetlichnaya, M. V. Panteleeva
Format: Article
Language:Russian
Published: ABV-press 2019-07-01
Series:Русский журнал детской неврологии
Subjects:
синдром дефицита транспортера глюкозы i типа
glut1
болезнь де виво
кетогенная диета
энцефалопатия
эпилепсия
клиническое наблюдение
мутация в гене scl2a
Online Access:https://rjdn.abvpress.ru/jour/article/view/294

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https://rjdn.abvpress.ru/jour/article/view/294

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