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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 1

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61 results

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Page 1
Cerebrospinal fluid 2-hydroxyglutarate as a monitoring biomarker for IDH-mutant gliomas.
Riviere-Cazaux C, Lacey JM, Carlstrom LP, Laxen WJ, Munoz-Casabella A, Hoplin MD, Ikram S, Zubair AB, Andersen KM, Warrington AE, Decker PA, Kaufmann TJ, Campian JL, Eckel-Passow JE, Kizilbash SH, Tortorelli S, Burns TC. Riviere-Cazaux C, et al. Among authors: tortorelli s. Neurooncol Adv. 2023 May 11;5(1):vdad061. doi: 10.1093/noajnl/vdad061. eCollection 2023 Jan-Dec. Neurooncol Adv. 2023. PMID: 37313502 Free PMC article. No abstract available.
Cerebrospinal fluid 2-hydroxyglutarate (2-HG) as a monitoring biomarker for IDH-mutant gliomas.
Riviere-Cazaux C, Lacey JM, Carlstrom LP, Laxen WJ, Munoz-Casabella A, Hoplin MD, Ikram S, Zubair AB, Andersen KM, Warrington AE, Decker PA, Kaufmann TJ, Campian JL, Eckel-Passow JE, Kizilbash SH, Tortorelli S, Burns TC. Riviere-Cazaux C, et al. Among authors: tortorelli s. medRxiv [Preprint]. 2023 Mar 2:2023.03.01.23286412. doi: 10.1101/2023.03.01.23286412. medRxiv. 2023. PMID: 36909488 Free PMC article. Updated. Preprint.
The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses.
Guenzel AJ, Hall PL, Scott AI, Lam C, Chang IJ, Thies J, Ferreira CR, Pichurin P, Laxen W, Raymond K, Gavrilov DK, Oglesbee D, Rinaldo P, Matern D, Tortorelli S. Guenzel AJ, et al. Among authors: tortorelli s. JIMD Rep. 2021 Apr 5;60(1):67-74. doi: 10.1002/jmd2.12217. eCollection 2021 Jul. JIMD Rep. 2021. PMID: 34258142 Free PMC article.
A new D-galactose treatment monitoring index for PGM1-CDG.
Perales-Clemente E, Liedtke K, Studinski A, Radenkovic S, Gavrilov D, Oglesbee D, Matern D, Rinaldo P, Tortorelli S, Morava E, Raymond K. Perales-Clemente E, et al. Among authors: tortorelli s. J Inherit Metab Dis. 2021 Sep;44(5):1263-1271. doi: 10.1002/jimd.12406. Epub 2021 Jun 22. J Inherit Metab Dis. 2021. PMID: 34043239
61 results