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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. Tortorelli S, et al. Among authors: rinaldo p. J Pediatr. 2010 Aug;157(2):271-5. doi: 10.1016/j.jpeds.2010.02.027. Epub 2010 Apr 14. J Pediatr. 2010. PMID: 20394947
Newborn screening for lysosomal storage disorders.
Matern D, Gavrilov D, Oglesbee D, Raymond K, Rinaldo P, Tortorelli S. Matern D, et al. Among authors: rinaldo p. Semin Perinatol. 2015 Apr;39(3):206-16. doi: 10.1053/j.semperi.2015.03.005. Epub 2015 Apr 16. Semin Perinatol. 2015. PMID: 25891428 Review.
200 results