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Glucose Transporter Type 1 Deficiency Syndrome: Developmental Delay and Early-Onset Ataxia in a Novel Mutation of the SLC2A1 Gene
Glucose transporter type 1 deficiency syndrome (GLUT1-DS) was first described by De Vivo in 1991, and the classic clinical manifestations include infantile epilepsy, developmental delay, and acquired microcephaly. A neurological complex disorder including elements of hypotonia, spasticity, ataxia, a...
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| Publicat a: | J Pediatr Neurosci |
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| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Medknow Publications & Media Pvt Ltd
2018
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6413611/ https://ncbi.nlm.nih.gov/pubmed/30937099 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/JPN.JPN_169_17 |
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