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

• Gerarda Cappuccio,

  Roles Conceptualization, Data curation, Formal analysis, Project administration, Writing – original draft, Writing – review & editing

  Affiliations 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

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• Michele Pinelli,

  Roles Data curation, Writing – review & editing

  Affiliations Department of Translational Medicine, Sector of Pediatrics, Federico II, University, Naples, Italy, Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy

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• Marianna Alagia,

  Roles Data curation, Investigation, Writing – review & editing

  Affiliations Department of Translational Medicine, Sector of Pediatrics, Federico II, University, Naples, Italy, Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy

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• Taraka Donti,

  Roles Data curation, Investigation, Methodology, Writing – review & editing

  Affiliations 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

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• Debra-Lynn Day-Salvatore,

  Roles Investigation, Writing – original draft, Writing – review & editing

  Affiliation Department of Medical Genetics & Genomic Medicine, Saint Peter’s University Hospital, New Brunswick, New Jersey, United States of America

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• Pierangelo Veggiotti,

  Roles Investigation, Writing – review & editing

  Affiliation Department Brain and Behavioral Sciences Fondazione IRCCS C, Mondino, Italy

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• Valentina De Giorgis,

  Roles Investigation, Writing – review & editing

  Affiliation Department Brain and Behavioral Sciences Fondazione IRCCS C, Mondino, Italy

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• Simona Lunghi,

  Roles Investigation, Writing – review & editing

  Affiliation Department Brain and Behavioral Sciences Fondazione IRCCS C, Mondino, Italy

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• Maria Stella Vari,

  Roles Investigation, Writing – review & editing

  Affiliation Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, ‘G, Gaslini’ Institute, Genova, Italy

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• Pasquale Striano,

  Roles Investigation, Writing – review & editing

  Affiliation Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, ‘G, Gaslini’ Institute, Genova, Italy

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• Nicola Brunetti-Pierri,

  Roles Investigation, Project administration, Resources, Supervision, Writing – original draft, Writing – review & editing

  Affiliations Department of Translational Medicine, Sector of Pediatrics, Federico II, University, Naples, Italy, Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy

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• Adam D. Kennedy,

  Roles Formal analysis, Investigation, Methodology, Validation, Visualization, Writing – original draft, Writing – review & editing

  Affiliation Metabolon, Morrisville, North Carolina, United States of America

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• Sarah H. Elsea

  Roles Conceptualization, Formal analysis, Funding acquisition, Investigation, Project administration, Resources, Supervision, Writing – original draft, Writing – review & editing

  * E-mail: Sarah.Elsea@bcm.edu

  Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, United States of America

  http://orcid.org/0000-0002-1400-8519

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