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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]
DOI 10.1016/j.ymgme.2024.109002
PMID 39729892
发布时间 2025-01-11
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