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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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Publicado en:Yonsei Med J
Main Authors: Kim, Hyuna, Lee, Jin Sook, Lee, Youngha, Kim, Soo Yeon, Lim, Byung Chan, Kim, Ki Joong, Choi, Murim, Chae, Jong-Hee
Formato: Artigo
Idioma:Inglês
Publicado: Yonsei University College of Medicine 2019
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6881708/
https://ncbi.nlm.nih.gov/pubmed/31769253
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3349/ymj.2019.60.12.1209
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