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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2004 1
2005 1
2006 3
2007 1
2008 4
2009 1
2010 5
2011 2
2012 2
2013 5
2014 2
2015 7
2016 5
2017 5
2018 4
2019 2
2020 10
2021 4
2022 2
2023 5
2024 3
2025 6
2026 2

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70 results

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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: tortorelli s. 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.
Precision newborn screening for lysosomal disorders.
Minter Baerg MM, Stoway SD, Hart J, Mott L, Peck DS, Nett SL, Eckerman JS, Lacey JM, Turgeon CT, Gavrilov D, Oglesbee D, Raymond K, Tortorelli S, Matern D, Mørkrid L, Rinaldo P. Minter Baerg MM, et al. Among authors: tortorelli s. Genet Med. 2018 Aug;20(8):847-854. doi: 10.1038/gim.2017.194. Epub 2017 Nov 9. Genet Med. 2018. PMID: 29120458 Free article.
Cerebrospinal fluid D-2-hydroxyglutarate for IDH-mutant glioma: utility for detection versus monitoring.
Riviere-Cazaux C, Suzuki Y, Kizilbash Z, Laxen WJ, Lacey JM, Wipplinger TM, Warrington AE, Keough MB, Kamga LF, Andersen KM, Canaday N, Kosel ML, Tortorelli S, Sener U, Ruff MW, Decker PA, Eckel-Passow JE, Kizilbash SH, Kaufmann TJ, Burns TC. Riviere-Cazaux C, et al. Among authors: tortorelli s. medRxiv [Preprint]. 2025 Apr 11:2025.04.08.25325500. doi: 10.1101/2025.04.08.25325500. medRxiv. 2025. Update in: Neurooncol Adv. 2026 Mar 09;8(1):vdag012. doi: 10.1093/noajnl/vdag012. PMID: 40297463 Free PMC article. Updated. Preprint.
Urine Sorbitol and Xylitol for the Diagnosis of Sorbitol Dehydrogenase Deficiency-Related Neuropathy.
Bontrager JE, White AL, Brigatti KW, Laxen W, Loken PR, Grider T, Oglesbee D, Gavrilov DK, Tortorelli S, Hall PL, Matern D, Lauer E, Pickart A, Salsbery K, Niu Z, Smith C, Albright A, Mukherjee-Clavin B, Parmar P, Mhoon J, Massie R, Pilon-Cadieux C, Gauthier A, Alawneh J, Emilie Nguyen CT, Shy ME, Koehler AE, Carson VJ, Herrmann DN, Schultz MJ. Bontrager JE, et al. Among authors: tortorelli s. Neurology. 2025 Dec 9;105(11):e214425. doi: 10.1212/WNL.0000000000214425. Epub 2025 Nov 12. Neurology. 2025. PMID: 41223342
Sensitivity of transferrin isoform analysis for PMM2-CDG.
Hall PL, Liedke K, Turgeon C, White A, Pino GB, Peck D, Studinski A, Gavrilov D, Tortorelli S, Oglesbee D, Matern D, Raymond K, Schultz MJ. Hall PL, et al. Among authors: tortorelli s. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108564. doi: 10.1016/j.ymgme.2024.108564. Epub 2024 Aug 11. Mol Genet Metab. 2024. PMID: 39216211
Newborn Screening for X-Linked Adrenoleukodystrophy.
Moser AB, Jones RO, Hubbard WC, Tortorelli S, Orsini JJ, Caggana M, Vogel BH, Raymond GV. Moser AB, et al. Among authors: tortorelli s. Int J Neonatal Screen. 2016 Dec;2(4):15. doi: 10.3390/ijns2040015. Epub 2016 Dec 6. Int J Neonatal Screen. 2016. PMID: 31467997 Free PMC article.
70 results