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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Main Authors: | E. A. Kulish, A. S. Kotov, E. V. Mukhina, Y. Y. Kotalevskaya, D. V. Svetlichnaya, M. V. Panteleeva |
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Format: | Article |
Language: | Russian |
Published: |
ABV-press
2019-07-01
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Series: | Русский журнал детской неврологии |
Subjects: | |
Online Access: | https://rjdn.abvpress.ru/jour/article/view/294 |
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