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Page 1
Newborn screening for lysosomal storage disorders.
Matern D, Gavrilov D, Oglesbee D, Raymond K, Rinaldo P, Tortorelli S. Matern D, et al. Among authors: gavrilov d. 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.
Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia.
Bonilla Guerrero R, Wolfe LA, Payne N, Tortorelli S, Matern D, Rinaldo P, Gavrilov D, Melan M, He M, Steinberg SJ, Raymond GV, Vockley J, Gibson KM. Bonilla Guerrero R, et al. Among authors: gavrilov d. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S453-6. doi: 10.1007/s10545-008-1039-y. Epub 2008 Dec 16. J Inherit Metab Dis. 2008. PMID: 19089597
Homogentisic acid interference in routine urine creatinine determination.
Loken PR, Magera MJ, Introne W, Tortorelli S, Gavrilov D, Oglesbee D, Rinaldo P, Matern D, Raymond K. Loken PR, et al. Among authors: gavrilov d. Mol Genet Metab. 2010 May;100(1):103-4. doi: 10.1016/j.ymgme.2010.01.006. Epub 2010 Jan 21. Mol Genet Metab. 2010. PMID: 20138792
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: gavrilov dk. 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
An adult onset case of alpha-methyl-acyl-CoA racemase deficiency.
Smith EH, Gavrilov DK, Oglesbee D, Freeman WD, Vavra MW, Matern D, Tortorelli S. Smith EH, et al. Among authors: gavrilov dk. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S349-53. doi: 10.1007/s10545-010-9183-6. Epub 2010 Sep 4. J Inherit Metab Dis. 2010. PMID: 20821052
89 results