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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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| Wydane w: | Yonsei Med J |
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| Główni autorzy: | , , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Yonsei University College of Medicine
2019
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| Hasła przedmiotowe: | |
| Dostęp online: | 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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