Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet

Global metabolomic profiling offers novel opportunities for the discovery of biomarkers and for the elucidation of pathogenic mechanisms that might lead to the development of novel therapies. GLUT1 deficiency syndrome (GLUT1-DS) is an inborn error of metabolism due to reduced function of glucose tra...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Cappuccio, Gerarda, Pinelli, Michele, Alagia, Marianna, Donti, Taraka, Day-Salvatore, Debra-Lynn, Veggiotti, Pierangelo, De Giorgis, Valentina, Lunghi, Simona, Vari, Maria Stella, Striano, Pasquale, Brunetti-Pierri, Nicola, Kennedy, Adam D., Elsea, Sarah H.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2017
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5621665/
https://ncbi.nlm.nih.gov/pubmed/28961260
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0184022
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