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Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening.
Wempe, Michael F; Kumar, Amit; Kumar, Vijay; Choi, Yu J; Swanson, Michael A; Friederich, Marisa W; Hyland, Keith; Yue, Wyatt W; Van Hove, Johan L K; Coughlin, Curtis R.
Affiliation
  • Wempe MF; School of Pharmacy, Department of Pharmaceutical Sciences, University of Colorado, Aurora, Colorado.
  • Kumar A; School of Pharmacy, Department of Pharmaceutical Sciences, University of Colorado, Aurora, Colorado.
  • Kumar V; School of Pharmacy, Department of Pharmaceutical Sciences, University of Colorado, Aurora, Colorado.
  • Choi YJ; School of Pharmacy, Department of Pharmaceutical Sciences, University of Colorado, Aurora, Colorado.
  • Swanson MA; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, Colorado.
  • Friederich MW; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, Colorado.
  • Hyland K; Medical Neurogenetics Laboratories, LLC, Atlanta, Georgia.
  • Yue WW; Structural Genomics Consortium, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK.
  • Van Hove JLK; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, Colorado.
  • Coughlin CR; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, Colorado.
J Inherit Metab Dis ; 42(3): 565-574, 2019 05.
Article in En | MEDLINE | ID: mdl-30663059
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Full text: 1 Database: MEDLINE Main subject: Pipecolic Acids / Neonatal Screening / Epilepsy Type of study: Diagnostic_studies / Prognostic_studies / Screening_studies Limits: Female / Humans / Male / Newborn Language: En Year: 2019 Type: Article
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Database: MEDLINE Main subject: Pipecolic Acids / Neonatal Screening / Epilepsy Type of study: Diagnostic_studies / Prognostic_studies / Screening_studies Limits: Female / Humans / Male / Newborn Language: En Year: 2019 Type: Article