The Journal of Pediatrics
Volume 157, Issue 2 , Pages 271-275, August 2010

Two-Tier Approach to the Newborn Screening of Methylenetetrahydrofolate Reductase Deficiency and Other Remethylation Disorders with Tandem Mass Spectrometry

  • Silvia Tortorelli, MD, PhD

      Affiliations

    • Department of Laboratory Medicine and Pathology, Mayo Clinic School of Medicine, Rochester, MN
  • ,
  • Coleman T. Turgeon

      Affiliations

    • Department of Laboratory Medicine and Pathology, Mayo Clinic School of Medicine, Rochester, MN
  • ,
  • James S. Lim, PhD

      Affiliations

    • Department of Laboratory Medicine and Pathology, Mayo Clinic School of Medicine, Rochester, MN
  • ,
  • Steve Baumgart, MD

      Affiliations

    • Children's National Medical Center, Washington, DC
  • ,
  • Debra-Lynn Day-Salvatore, MD, PhD

      Affiliations

    • Institute for Genetic Medicine, St. Peter's University Hospital, New Brunswick, NJ
  • ,
  • Jose Abdenur, MD

      Affiliations

    • CHOC Children's, Orange County, CA
  • ,
  • Jonathan A. Bernstein, MD, PhD

      Affiliations

    • Department of Pediatrics, Stanford University School of Medicine, Palo Alto, CA
  • ,
  • Fred Lorey, PhD

      Affiliations

    • California Department of Public Health, Richmond, CA
  • ,
  • Uta Lichter-Konecki, MD, PhD

      Affiliations

    • Children's National Medical Center, Washington, DC
  • ,
  • Devin Oglesbee, PhD

      Affiliations

    • Department of Laboratory Medicine and Pathology, Mayo Clinic School of Medicine, Rochester, MN
  • ,
  • Kimiyo Raymond, MD

      Affiliations

    • Department of Laboratory Medicine and Pathology, Mayo Clinic School of Medicine, Rochester, MN
  • ,
  • Dietrich Matern, MD

      Affiliations

    • Department of Laboratory Medicine and Pathology, Mayo Clinic School of Medicine, Rochester, MN
  • ,
  • Lisa Schimmenti, MD

      Affiliations

    • Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN
  • ,
  • Piero Rinaldo, MD, PhD

      Affiliations

    • Department of Laboratory Medicine and Pathology, Mayo Clinic School of Medicine, Rochester, MN
  • ,
  • Dimitar K. Gavrilov, MD, PhD

      Affiliations

    • Department of Laboratory Medicine and Pathology, Mayo Clinic School of Medicine, Rochester, MN
    • Corresponding Author InformationReprint requests: Dimitar Gavrilov, MD, PhD, Biochemical Genetics Laboratory - Hilton 330, Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First St SW, Rochester, MN 55905.

Received 21 August 2009; received in revised form 20 January 2010; accepted 17 February 2010. published online 15 April 2010.

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 The authors declare no conflicts of interest.

PII: S0022-3476(10)00151-4

doi:10.1016/j.jpeds.2010.02.027

The Journal of Pediatrics
Volume 157, Issue 2 , Pages 271-275, August 2010