Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Text availability

Article attribute

Article type

Publication date

Search Results

61 results

Results by year

Filters applied: . Clear all
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.
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
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.
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.
61 results