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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5621665/
https://www.ncbi.nlm.nih.gov/pubmed/28961260
http://dx.doi.org/10.1371/journal.pone.0184022

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5621665/
https://www.ncbi.nlm.nih.gov/pubmed/28961260
http://dx.doi.org/10.1371/journal.pone.0184022

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