A novel mutation in SLC2A1 gene causing GLUT-1 deficiency syndrome in a young adult patient
GLUT-1 deficiency syndrome is a rare, frequently unrecognized metabolic encephalopathy that is probably underdiagnosed. Although developmental delay, acquired microcephaly, spasticity, and impaired coordination were initially described as the classic findings, mild cases with no pronounced neuromot...
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| Principais autores: | , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Hacettepe University Institute of Child Health
2019-12-01
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| Serier: | The Turkish Journal of Pediatrics |
| Fag: | |
| Online adgang: | https://turkjpediatr.org/article/view/796 |
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