Community Academic Profiles–

Jon Bernstein

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Publication Details

  • Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry.

    Tortorelli S, Turgeon CT, Lim JS, Baumgart S, Day-Salvatore DL, Abdenur J, Bernstein JA, Lorey F, Lichter-Konecki U, Oglesbee D, Raymond K, Matern D, Schimmenti L, Rinaldo P, Gavrilov DK. J Pediatr. 2010; 157 (2): 271-5

    To validate a 2-tier approach for newborn screening (NBS) of remethylation defects.

    PubMedID: 20394947

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