Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots. (Q53145595)

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scientific article published on 20 July 2017

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English	Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.	scientific article published on 20 July 2017

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25 March 2020

Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots (English)

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Adeline Vanderver

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Thaís Armangue

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Keith van Haren

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Heather Gordish-Dressman

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Heather Gordish-Dressman

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Joseph J Orsini

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Asako Takanohashi

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Francesco Gavazzi

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Alex Conant

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Nicole Ulrick

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Mark A Morrissey

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Norah Nahhas

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Davide Tonduti

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Chloe Stutterd

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Camilo Toro

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Alejandro D Iglesias

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Marjo S van der Knaap

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Raphaela Goldbach Mansky

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Anne B Moser

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Richard O Jones

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20 July 2017

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Molecular Genetics and Metabolism

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3

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Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy

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Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

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