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Classic Imaging Features of L-2-Hydroxyglutaric Aciduria in Young Adult Presenting as Seizures Associated with Fever
L-2 Hydroxyglutaric aciduria is a rare metabolic disorder which is autosomal recessive in inheritance. It is characterised by the increased urinary excretion of L-2 hydroxyglutaric acid and the diagnosis is based on the increased levels of the L-2 hydroxy glutaric acid in the urine, serum & CSF....
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| Опубликовано в: : | Ann Indian Acad Neurol |
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| Главные авторы: | , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Wolters Kluwer - Medknow
2020
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7313586/ https://ncbi.nlm.nih.gov/pubmed/32606526 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/aian.AIAN_385_18 |
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