Article
Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry.
The Journal of pediatrics - 1 Aug 2010
Tortorelli Silvia, Turgeon Coleman T, Lim James S, Baumgart Steve, Day-Salvatore Debra-Lynn, Abdenur Jose, Bernstein Jonathan A, Lorey Fred, Lichter-Konecki Uta, Oglesbee Devin, Raymond Kimiyo, Matern Dietrich, Schimmenti Lisa, Rinaldo Piero, Gavrilov Dimitar K
Abstract excerpt
OBJECTIVE: To validate a 2-tier approach for newborn screening (NBS) of remethylation defects. STUDY DESIGN: The original NBS dried blood spots of 5 patients with a proven diagnosis of a remethylation disorder and 1 patient with biochemical evidence of such disorder were analyzed retrospectively to determine disease ranges for methionine (Met; 4.7-8.1 micromol/L; 1 percentile of healthy population, 11.1...
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