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

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Bibliographic Details
Title: Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet.
Authors: Cappuccio G; Department of Translational Medicine, Sector of Pediatrics, Federico II, University, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, United States of America., Pinelli M; Department of Translational Medicine, Sector of Pediatrics, Federico II, University, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy., Alagia M; Department of Translational Medicine, Sector of Pediatrics, Federico II, University, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy., Donti T; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, United States of America.; Greenwood Genetic Center, Greenwood, South Carolina, United States of America., Day-Salvatore DL; Department of Medical Genetics & Genomic Medicine, Saint Peter's University Hospital, New Brunswick, New Jersey, United States of America., Veggiotti P; Department Brain and Behavioral Sciences Fondazione IRCCS C, Mondino, Italy., De Giorgis V; Department Brain and Behavioral Sciences Fondazione IRCCS C, Mondino, Italy., Lunghi S; Department Brain and Behavioral Sciences Fondazione IRCCS C, Mondino, Italy., Vari MS; Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 'G, Gaslini' Institute, Genova, Italy., Striano P; Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 'G, Gaslini' Institute, Genova, Italy., Brunetti-Pierri N; Department of Translational Medicine, Sector of Pediatrics, Federico II, University, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy., Kennedy AD; Metabolon, Morrisville, North Carolina, United States of America., Elsea SH; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, United States of America.
Source: PloS one [PLoS One] 2017 Sep 29; Vol. 12 (9), pp. e0184022. Date of Electronic Publication: 2017 Sep 29 (Print Publication: 2017).
Publication Type: Journal Article
Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1932-6203
DOI:10.1371/journal.pone.0184022