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Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.
Armangue, Thais; Orsini, Joseph J; Takanohashi, Asako; Gavazzi, Francesco; Conant, Alex; Ulrick, Nicole; Morrissey, Mark A; Nahhas, Norah; Helman, Guy; Gordish-Dressman, Heather; Orcesi, Simona; Tonduti, Davide; Stutterd, Chloe; van Haren, Keith; Toro, Camilo; Iglesias, Alejandro D; van der Knaap, Marjo S; Goldbach Mansky, Raphaela; Moser, Anne B; Jones, Richard O; Vanderver, Adeline.
Afiliação
  • Armangue T; Neuroimmunology Program, IDIBAPS-Hospital Clinic, University of Barcelona, Barcelona, Spain; Department of Neurology, Children's National Health System, Washington, DC, USA; Pediatric Neuroimmunology and Neuroinfectious Unit, Neurology Service, Sant Joan de Deu Children's Hospital, University of Bar
  • Orsini JJ; Wadsworth Center, New York State Department of Health, Newborn Screening Program, Albany, NY, USA. Electronic address: joseph.orsini@health.ny.gov.
  • Takanohashi A; Center For Genetic Medicine, Children's National Health System, Washington, DC, USA; Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, USA. Electronic address: takanohashi@email.chop.edu.
  • Gavazzi F; Child Neurology and Psychiatry Department, Children's Hospital of Brescia, Spedali Civili of Brescia, Brescia, Italy; Clinical and Experimental Sciences Department, University of Brescia, Brescia, Italy.
  • Conant A; Department of Neurology, Children's National Health System, Washington, DC, USA; Center For Genetic Medicine, Children's National Health System, Washington, DC, USA.
  • Ulrick N; Department of Neurology, Children's National Health System, Washington, DC, USA; Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, USA. Electronic address: ulrickn@email.chop.edu.
  • Morrissey MA; Wadsworth Center, New York State Department of Health, Newborn Screening Program, Albany, NY, USA.
  • Nahhas N; Department of Neurology, Children's National Health System, Washington, DC, USA.
  • Helman G; Department of Neurology, Children's National Health System, Washington, DC, USA; Institute for Molecular Bioscience, University of Queensland, Brisbane, Australia. Electronic address: guy.helman@uq.net.au.
  • Gordish-Dressman H; Center For Genetic Medicine, Children's National Health System, Washington, DC, USA. Electronic address: hgordish@childrensnational.org.
  • Orcesi S; Child Neurology and Psychiatry Unit, 'C. Mondino' National Neurological Institute, Pavia, Italy. Electronic address: simona.orcesi@mondino.it.
  • Tonduti D; Department of Child Neurology, C. Besta Neurological Institute IRCCS Foundation, Milano, Italy.
  • Stutterd C; Department of Neurology, Royal Children's Hospital of Melbourne, Melbourne, Australia; Victorian Clinical Genetics Service, Murdoch Childrens Research Institute, Melbourne, Australia. Electronic address: chloe.stutterd@vcgs.org.au.
  • van Haren K; Neurology and Neurological Sciences, Stanford University Medical Center, Palo Alto, CA, USA. Electronic address: kpv@stanford.edu.
  • Toro C; Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD, USA. Electronic address: toroc@mail.nih.gov.
  • Iglesias AD; Division of Clinical Genetics, Columbia University Medical Center, NY, USA. Electronic address: ai2269@cumc.columbia.edu.
  • van der Knaap MS; Department of Child neurology, The Center for Childhood White Matter Disorders, VU University Medical Center, Amsterdam Neuroscience, Amsterdam, The Netherlands. Electronic address: ms.vanderknaap@vumc.nl.
  • Goldbach Mansky R; Translational Autoinflammatory Disease Studies (TADS), NIH, NIAID, USA. Electronic address: raphaela.goldbach-mansky@nih.gov.
  • Moser AB; Peroxisomal Diseases Laboratory, Kennedy Krieger Institute, Baltimore, MD, USA. Electronic address: mosera@kennedykrieger.org.
  • Jones RO; Peroxisomal Diseases Laboratory, Kennedy Krieger Institute, Baltimore, MD, USA. Electronic address: jonesri@kennedykrieger.org.
  • Vanderver A; Department of Neurology, Children's National Health System, Washington, DC, USA; Center For Genetic Medicine, Children's National Health System, Washington, DC, USA; Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, USA; Department of Integrated Systems Biology and P
Mol Genet Metab ; 122(3): 134-139, 2017 11.
Article em En | MEDLINE | ID: mdl-28739201
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Lisofosfatidilcolinas / Interferons / Triagem Neonatal / Doenças Autoimunes do Sistema Nervoso / Malformações do Sistema Nervoso Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Lisofosfatidilcolinas / Interferons / Triagem Neonatal / Doenças Autoimunes do Sistema Nervoso / Malformações do Sistema Nervoso Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2017 Tipo de documento: Article