Diagnostic Challenges Associated with GLUT1 Deficiency: Phenotypic Variabilities and Evolving Clinical Features

GLUT1 deficiency is a rare neurometabolic disorder that can be effectively treated with ketogenic diet. However, this condition is underdiagnosed due to its nonspecific, overlapping, and evolving symptoms with age. We retrospectively reviewed the clinical course of nine patients diagnosed with GLUT1...

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Detalles Bibliográficos
Autores principales: Kim, Hyuna, Lee, Jin Sook, Lee, Youngha, Kim, Soo Yeon, Lim, Byung Chan, Kim, Ki Joong, Choi, Murim, Chae, Jong-Hee
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Yonsei University College of Medicine 2019
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6881708/
https://www.ncbi.nlm.nih.gov/pubmed/31769253
http://dx.doi.org/10.3349/ymj.2019.60.12.1209

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6881708/
https://www.ncbi.nlm.nih.gov/pubmed/31769253
http://dx.doi.org/10.3349/ymj.2019.60.12.1209

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