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Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria.
Pino G, Conboy E, Tortorelli S, Minnich S, Nickander K, Lacey J, Peck D, Studinski A, White A, Gavrilov D, Rinaldo P, Matern D, Oglesbee D, Giugliani R, Burin M, Raymond K. Pino G, et al. Among authors: oglesbee d. Mol Genet Metab. 2020 Feb;129(2):106-110. doi: 10.1016/j.ymgme.2019.10.009. Epub 2019 Nov 5. Mol Genet Metab. 2020. PMID: 31753749
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: oglesbee 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: oglesbee d. 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
136 results