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Clinical Variability of GLUT1DS
Investigators from Pavia, Rho, Brescia and Milan, Italy, studied 22 patients diagnosed with GLUT1 deficiency syndrome (GLUT1DS) to document clinical or genetic differences between patients with familial SLC2A1 gene mutations (n=11) and those with sporadic mutations (n=11).
Autores principales: | Melnikova, Anastasia Martinez-Esteve, Korff, Christian M. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Pediatric Neurology Briefs Publishers
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4747289/ https://www.ncbi.nlm.nih.gov/pubmed/26933557 http://dx.doi.org/10.15844/pedneurbriefs-29-2-5 |
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