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Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet.
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.
Afiliação
  • Cappuccio G; Department of Translational Medicine, Sector of Pediatrics, Federico II, University, Naples, Italy.
  • Pinelli M; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
  • Alagia M; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, United States of America.
  • Donti T; Department of Translational Medicine, Sector of Pediatrics, Federico II, University, Naples, Italy.
  • Day-Salvatore DL; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
  • Veggiotti P; Department of Translational Medicine, Sector of Pediatrics, Federico II, University, Naples, Italy.
  • De Giorgis V; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
  • Lunghi S; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, United States of America.
  • Vari MS; Greenwood Genetic Center, Greenwood, South Carolina, United States of America.
  • Striano P; Department of Medical Genetics & Genomic Medicine, Saint Peter's University Hospital, New Brunswick, New Jersey, United States of America.
  • Brunetti-Pierri N; Department Brain and Behavioral Sciences Fondazione IRCCS C, Mondino, Italy.
  • Kennedy AD; Department Brain and Behavioral Sciences Fondazione IRCCS C, Mondino, Italy.
  • Elsea SH; Department Brain and Behavioral Sciences Fondazione IRCCS C, Mondino, Italy.
PLoS One ; 12(9): e0184022, 2017.
Article em En | MEDLINE | ID: mdl-28961260

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Transporte de Monossacarídeos / Biomarcadores / Dieta Cetogênica Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: PLoS One Assunto da revista: CIENCIA / MEDICINA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Itália

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Transporte de Monossacarídeos / Biomarcadores / Dieta Cetogênica Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: PLoS One Assunto da revista: CIENCIA / MEDICINA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Itália