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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...
সংরক্ষণ করুন:
| প্রকাশিত: | Yonsei Med J |
|---|---|
| প্রধান লেখক: | , , , , , , , |
| বিন্যাস: | Artigo |
| ভাষা: | Inglês |
| প্রকাশিত: |
Yonsei University College of Medicine
2019
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| বিষয়গুলি: | |
| অনলাইন ব্যবহার করুন: | 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 |
| ট্যাগগুলো: |
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