Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet.
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| Title: | Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet. |
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| 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 |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 28961260 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Cappuccio+G%22">Cappuccio G</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Pinelli+M%22">Pinelli M</searchLink>; Department of Translational Medicine, Sector of Pediatrics, Federico II, University, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Alagia+M%22">Alagia M</searchLink>; Department of Translational Medicine, Sector of Pediatrics, Federico II, University, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Donti+T%22">Donti T</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Day-Salvatore+DL%22">Day-Salvatore DL</searchLink>; Department of Medical Genetics & Genomic Medicine, Saint Peter's University Hospital, New Brunswick, New Jersey, United States of America.<br /><searchLink fieldCode="AU" term="%22Veggiotti+P%22">Veggiotti P</searchLink>; Department Brain and Behavioral Sciences Fondazione IRCCS C, Mondino, Italy.<br /><searchLink fieldCode="AU" term="%22De+Giorgis+V%22">De Giorgis V</searchLink>; Department Brain and Behavioral Sciences Fondazione IRCCS C, Mondino, Italy.<br /><searchLink fieldCode="AU" term="%22Lunghi+S%22">Lunghi S</searchLink>; Department Brain and Behavioral Sciences Fondazione IRCCS C, Mondino, Italy.<br /><searchLink fieldCode="AU" term="%22Vari+MS%22">Vari MS</searchLink>; Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 'G, Gaslini' Institute, Genova, Italy.<br /><searchLink fieldCode="AU" term="%22Striano+P%22">Striano P</searchLink>; Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 'G, Gaslini' Institute, Genova, Italy.<br /><searchLink fieldCode="AU" term="%22Brunetti-Pierri+N%22">Brunetti-Pierri N</searchLink>; Department of Translational Medicine, Sector of Pediatrics, Federico II, University, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Kennedy+AD%22">Kennedy AD</searchLink>; Metabolon, Morrisville, North Carolina, United States of America.<br /><searchLink fieldCode="AU" term="%22Elsea+SH%22">Elsea SH</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, United States of America. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101285081%22">PloS one</searchLink> [PLoS One] 2017 Sep 29; Vol. 12 (9), pp. e0184022. <i>Date of Electronic Publication: </i>2017 Sep 29 (<i>Print Publication: </i>2017). – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Public+Library+of+Science%22">Public Library of Science </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101285081 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Internet <i>ISSN: </i>1932-6203 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2219326203%22">19326203 </searchLink><i>NLM ISO Abbreviation: </i>PLoS One <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=28961260 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1371/journal.pone.0184022 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: e0184022 Titles: – TitleFull: Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Cappuccio G – PersonEntity: Name: NameFull: Pinelli M – PersonEntity: Name: NameFull: Alagia M – PersonEntity: Name: NameFull: Donti T – PersonEntity: Name: NameFull: Day-Salvatore DL – PersonEntity: Name: NameFull: Veggiotti P – PersonEntity: Name: NameFull: De Giorgis V – PersonEntity: Name: NameFull: Lunghi S – PersonEntity: Name: NameFull: Vari MS – PersonEntity: Name: NameFull: Striano P – PersonEntity: Name: NameFull: Brunetti-Pierri N – PersonEntity: Name: NameFull: Kennedy AD – PersonEntity: Name: NameFull: Elsea SH IsPartOfRelationships: – BibEntity: Dates: – D: 29 M: 09 Text: 2017 Sep 29 Type: published Y: 2017 Identifiers: – Type: issn-electronic Value: 1932-6203 Numbering: – Type: volume Value: 12 – Type: issue Value: 9 Titles: – TitleFull: PloS one Type: main |
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