Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency.

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Title: Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency.
Authors: Rahhal S; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health (NIH), Bethesda, MD, USA., Farmer C; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health (NIH), Bethesda, MD, USA., Thurm A; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health (NIH), Bethesda, MD, USA., Wassif CA; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health (NIH), Bethesda, MD, USA., Cawley NX; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health (NIH), Bethesda, MD, USA., Perreault J; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health (NIH), Bethesda, MD, USA., Dang Do A; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health (NIH), Bethesda, MD, USA., Bianconi S; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health (NIH), Bethesda, MD, USA., Hannah-Shmouni F; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health (NIH), Bethesda, MD, USA., Guthrie W; Center for Autism Research, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Developmental and Behavioral Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Cubit LS; Center for Autism Research, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Miller JS; Center for Autism Research, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Developmental and Behavioral Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Sutton VR; Department of Molecular & Human Genetics, Baylor College of Medicine & Texas Children's Hospital, USA., Koeberl D; Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA., Porter FD; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health (NIH), Bethesda, MD, USA.
Source: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2023 Aug 21; Vol. 37, pp. 101001. Date of Electronic Publication: 2023 Aug 21 (Print Publication: 2023).
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency.
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  Data: <searchLink fieldCode="AU" term="%22Rahhal+S%22">Rahhal S</searchLink>; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health (NIH), Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Farmer+C%22">Farmer C</searchLink>; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health (NIH), Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Thurm+A%22">Thurm A</searchLink>; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health (NIH), Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Wassif+CA%22">Wassif CA</searchLink>; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health (NIH), Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Cawley+NX%22">Cawley NX</searchLink>; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health (NIH), Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Perreault+J%22">Perreault J</searchLink>; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health (NIH), Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Dang+Do+A%22">Dang Do A</searchLink>; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health (NIH), Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Bianconi+S%22">Bianconi S</searchLink>; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health (NIH), Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Hannah-Shmouni+F%22">Hannah-Shmouni F</searchLink>; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health (NIH), Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Guthrie+W%22">Guthrie W</searchLink>; Center for Autism Research, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Developmental and Behavioral Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Cubit+LS%22">Cubit LS</searchLink>; Center for Autism Research, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Miller+JS%22">Miller JS</searchLink>; Center for Autism Research, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Developmental and Behavioral Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Sutton+VR%22">Sutton VR</searchLink>; Department of Molecular & Human Genetics, Baylor College of Medicine & Texas Children's Hospital, USA.<br /><searchLink fieldCode="AU" term="%22Koeberl+D%22">Koeberl D</searchLink>; Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.<br /><searchLink fieldCode="AU" term="%22Porter+FD%22">Porter FD</searchLink>; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health (NIH), Bethesda, MD, USA.
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  Data: <searchLink fieldCode="JN" term="%22101624422%22">Molecular genetics and metabolism reports</searchLink> [Mol Genet Metab Rep] 2023 Aug 21; Vol. 37, pp. 101001. <i>Date of Electronic Publication: </i>2023 Aug 21 (<i>Print Publication: </i>2023).
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        Value: 10.1016/j.ymgmr.2023.101001
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        Text: English
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      – TitleFull: Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency.
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