Aicardi-Goutières syndrome may present with positive newborn screen for X-linked adrenoleukodystrophy.

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第一作者： Christina G,Tise

第一单位： Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA.

作者： Christina G,Tise ^[1] ; Jose Andres,Morales ^[1] ; Ariel S,Lee ^[2] ; Frances,Velez-Bartolomei ^[1] ; Brendan J,Floyd ^[1] ; Rebecca J,Levy ^[1] ; Kristina P,Cusmano-Ozog ^[3] ; Annette S,Feigenbaum ^[2] ; Maura R Z,Ruzhnikov ^[4] ; Chung U,Lee ^[1] ; Gregory M,Enns ^[1]

作者单位： Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA. ^[1] Division of Medical Genetics, Department of Pediatrics, Rady Children's Hospital and University of California, San Diego, California, USA. ^[2] Department of Pathology, Stanford University, Stanford, California, USA. ^[3] Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA.;Division of Child Neurology, Department of Neurology, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA. ^[4]

关键词 Aicardi-Goutières syndrome (AGS)C26:0 lysophosphatidylcholine (C26:0-LPC)X-linked adrenoleukodystrophy (X-ALD)newborn screen (NBS)very long chain fatty acids (VLCFA)