A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C
Background: Glucose transporter type 1 deficiency syndrome is the result of impaired glucose transport into the brain. Patients with glucose transporter type 1 syndrome may present with infantile seizures, developmental delay, acquired microcephaly, spasticity and ataxia. Case Report: Here, we rep...
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| Principais autores: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Trakya University
2017-12-01
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| coleção: | Balkan Medical Journal |
| Assuntos: | |
| Acesso em linha: | http://balkanmedicaljournal.org/text.php?lang=en&id=1903 |
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