Clinical and Genetic Characteristics of Chinese Children With GLUT1 Deficiency Syndrome: Case Report and Literature Review
Objective: GLUT1 deficiency syndrome (GLUT1-DS) is a rare, treatable neurometabolic disorder. However, its diagnosis may be challenging due to the various and evolving phenotypes. Here we report the first Chinese familial cases with genetically confirmed GLUT1-DS and analyze the characteristics of C...
Enregistré dans:
| Auteurs principaux: | , , , , |
|---|---|
| Format: | article |
| Langue: | EN |
| Publié: |
Frontiers Media S.A.
2021
|
| Sujets: | |
| Accès en ligne: | https://doaj.org/article/a76b2d250d0c40769e97dd5da5a4a8d2 |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|
Soyez le premier à ajouter un commentaire!