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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Hlavní autoři:	Gerarda Cappuccio, Michele Pinelli, Marianna Alagia, Taraka Donti, Debra-Lynn Day-Salvatore, Pierangelo Veggiotti, Valentina De Giorgis, Simona Lunghi, Maria Stella Vari, Pasquale Striano, Nicola Brunetti-Pierri, Adam D Kennedy, Sarah H Elsea
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Public Library of Science (PLoS) 2017-01-01
Edice:	PLoS ONE
On-line přístup:	http://europepmc.org/articles/PMC5621665?pdf=render
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