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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Vydáno v:PLoS One
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2017
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Research Article
On-line přístup: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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