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...

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Detalles Bibliográficos
Autores principales: Hu, Qingqing, Shen, Yuechi, Su, Tangfeng, Liu, Yan, Xu, Sanqing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8645975/
https://www.ncbi.nlm.nih.gov/pubmed/34880899
http://dx.doi.org/10.3389/fgene.2021.734481

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8645975/
https://www.ncbi.nlm.nih.gov/pubmed/34880899
http://dx.doi.org/10.3389/fgene.2021.734481

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