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J-GLOBAL ID：201802252913246360 整理番号：18A0069139

新生児検診血液スポットに及ぼす増加したC26:0リゾホスファチジルコリンとインターフェロンシグネチャによるAicardi Goutieres症候群の新生児検出【Powered by NICT】

Neonatal detection of Aicardi Goutieres Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots

著者 (34件)：

Armangue Thais

(Neuroimmunology Program, IDIBAPS-Hospital Clinic, University of Barcelona, Barcelona, Spain)

Armangue Thais

(Department of Neurology, Children’s National Health System, Washington, DC, USA)

Armangue Thais

(Pediatric Neuroimmunology and Neuroinfectious Unit, Neurology Service, Sant Joan de Deu Children’s Hospital, University of Barcelona, Barcelona, Spain)

Armangue Thais

(CIBERER (Consortium of Rare Diseases), Spain)

Orsini Joseph J.

(Wadsworth Center, New York State Department of Health, Newborn Screening Program, Albany, NY, USA)

Takanohashi Asako

(Center For Genetic Medicine, Children’s National Health System, Washington, DC, USA)

Takanohashi Asako

(Children’s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, USA)

Gavazzi Francesco

(Child Neurology and Psychiatry Department, Children’s Hospital of Brescia, Spedali Civili of Brescia, Brescia, Italy)

Gavazzi Francesco

(Clinical and Experimental Sciences Department, University of Brescia, Brescia, Italy)

Conant Alex

(Department of Neurology, Children’s National Health System, Washington, DC, USA)

Conant Alex

(Center For Genetic Medicine, Children’s National Health System, Washington, DC, USA)

Ulrick Nicole

(Department of Neurology, Children’s National Health System, Washington, DC, USA)

Ulrick Nicole

(Children’s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, USA)

Morrissey Mark A.

(Wadsworth Center, New York State Department of Health, Newborn Screening Program, Albany, NY, USA)

Nahhas Norah

(Department of Neurology, Children’s National Health System, Washington, DC, USA)

Helman Guy

(Department of Neurology, Children’s National Health System, Washington, DC, USA)

Helman Guy

(Institute for Molecular Bioscience, University of Queensland, Brisbane, Australia)

Gordish-Dressman Heather

(Center For Genetic Medicine, Children’s National Health System, Washington, DC, USA)

Orcesi Simona

(Child Neurology and Psychiatry Unit, ‘C. Mondino’ National Neurological Institute, Pavia, Italy)

Tonduti Davide

(Department of Child Neurology, C. Besta Neurological Institute IRCCS Foundation, Milano, Italy)

Stutterd Chloe

(Department of Neurology, Royal Children’s Hospital of Melbourne, Melbourne, Australia)

Stutterd Chloe

(Victorian Clinical Genetics Service, Murdoch Childrens Research Institute, Melbourne, Australia)

van Haren Keith

(Neurology and Neurological Sciences, Stanford University Medical Center, Palo Alto, CA, USA)

Toro Camilo

(Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD, USA)

Iglesias Alejandro D.

(Division of Clinical Genetics, Columbia University Medical Center, NY, USA)

van der Knaap Marjo S.

(Department of Child neurology, The Center for Childhood White Matter Disorders, VU University Medical Center, Amsterdam Neuroscience, Amsterdam, The Netherlands)

Goldbach Mansky Raphaela

(Translational Autoinflammatory Disease Studies (TADS), NIH, NIAID, USA)

Moser Anne B.

(Peroxisomal Diseases Laboratory, Kennedy Krieger Institute, Baltimore, MD, USA)

Jones Richard O.

(Peroxisomal Diseases Laboratory, Kennedy Krieger Institute, Baltimore, MD, USA)

Vanderver Adeline

(Department of Neurology, Children’s National Health System, Washington, DC, USA)

Vanderver Adeline

(Center For Genetic Medicine, Children’s National Health System, Washington, DC, USA)

Vanderver Adeline

(Children’s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, USA)

Vanderver Adeline

(Department of Integrated Systems Biology and Pediatrics, George Washington University, Washington, DC, USA)

Vanderver Adeline

(Perlman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA)

資料名：

Molecular Genetics and Metabolism (Molecular Genetics and Metabolism)

巻： 122 号： 3 ページ： 134-139 発行年： 2017年
JST資料番号： E0820A ISSN： 1096-7192 資料種別：逐次刊行物 (A)
記事区分：原著論文発行国：オランダ (NLD) 言語：英語 (EN)

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