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A Cause of Permanent Ketosis: GLUT-1 Deficiency
GLUT-1-deficiency syndrome (GLUT1-DS; OMIM 606777) is a treatable metabolic disorder caused by a mutation of SLC2A1 gene. The functional deficiency of the GLUT1 protein leads to an impaired glucose transport into the brain, resulting in neurologic disorders. We report on a 6-month-old boy with prepr...
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| Publicado no: | JIMD Rep |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4361925/ https://ncbi.nlm.nih.gov/pubmed/25256448 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_352 |
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