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

Author:

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.ORCID

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference42 articles.

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3. Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of Metabolism;AD Kennedy;Genet Test Mol Biomarkers,2016

4. The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome;J Larsen;Epilepsia,2015

5. Cellular mechanisms of brain hypoglycemia;NK Isaev;Biochemistry (Moscow),2007

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