Feasibility of newborn screening for pyridoxine-dependent epilepsy.

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第一作者： Kristine,Pauly

第一单位： Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.

作者： Kristine,Pauly ^[1] ; Michael,Woontner ^[1] ; Jose E,Abdenur ^[2] ; Bimal P,Chaudhari ^[3] ; Rachel,Gosselin ^[4] ; Kimberly A,Kripps ^[5] ; Janet A,Thomas ^[1] ; Michael F,Wempe ^[6] ; Sidney M,Gospe ^[7] ; Curtis R,Coughlin ^[8]

作者单位： Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA. ^[1] Division of Metabolic Disorders, CHOC Children's Hospital, Orange, CA, USA. ^[2] Department of Pediatrics, Division of Genetics and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, Division of Neonatology, Nationwide Children's Hospital, Columbus, OH, USA; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA. ^[3] Department of Pediatrics, Division of Genetics and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA. ^[4] Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR, USA. ^[5] School of Pharmacy, Department of Pharmaceutical Sciences, University of Colorado, Aurora, CO, USA; Univeristy of Colorado Cancer Center, University of Colorado Anschutz Medical Campus, Aurora, CO, USA. ^[6] Departments of Neurology and Pediatrics, University of Washington School of Medicine, Seattle, WA, USA; Seattle Children's Research Institute, Seattle, WA, USA; Department of Pediatrics, Duke University, Durham, NC, USA. ^[7] Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA. Electronic address: Curtis.Coughlin@cuanschutz.edu. ^[8]

关键词 6-oxo-pipecolate ALDH7A1 Newborn screening PDE-ALDH7A1 Pyridoxine-dependent epilepsy