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

Year Number of Results
1954 1
1991 1
1993 1
1995 1
1996 5
1997 2
1998 1
1999 3
2000 8
2001 8
2002 5
2003 7
2004 10
2005 9
2006 6
2007 8
2008 12
2009 4
2010 11
2011 12
2012 11
2013 10
2014 6
2015 5
2016 4
2017 6
2018 7
2019 4
2020 10
2021 9
2022 3
2023 4
2024 3

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Search Results

177 results

Results by year

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Page 1
εγ-Thalassemia, a New Hemoglobinopathy Category.
Oliveira JL, Thompson CH, Saravanaperumal SA, Koganti T, Jenkinson G, Hein MS, Kohorst MA, Hasadsri L, Nguyen PL, Matern D, Kipp BR, Klee EW, Wieben ED, Hoyer JD, Rangan A. Oliveira JL, et al. Among authors: matern d. Clin Chem. 2023 Jul 5;69(7):711-717. doi: 10.1093/clinchem/hvad038. Clin Chem. 2023. PMID: 37086467
Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories.
Gelb MH, Basheeruddin K, Burlina A, Chen HJ, Chien YH, Dizikes G, Dorley C, Giugliani R, Hietala A, Hong X, Kao SM, Khaledi H, Klug T, Kubaski F, Liao HC, Martin M, Manning A, Orsini J, Peng Y, Ranieri E, Rohrwasser A, Szabo-Fresnais N, Turgeon CT, Vaz FM, Wang LY, Matern D. Gelb MH, et al. Among authors: matern d. Int J Neonatal Screen. 2022 Nov 28;8(4):62. doi: 10.3390/ijns8040062. Int J Neonatal Screen. 2022. PMID: 36547379 Free PMC article. Review.
Newborn screening for lysosomal storage disorders.
Matern D, Gavrilov D, Oglesbee D, Raymond K, Rinaldo P, Tortorelli S. Matern D, et al. 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.
Acute management of propionic acidemia.
Chapman KA, Gropman A, MacLeod E, Stagni K, Summar ML, Ueda K, Ah Mew N, Franks J, Island E, Matern D, Pena L, Smith B, Sutton VR, Urv T, Venditti C, Chakrapani A. Chapman KA, et al. Among authors: matern d. Mol Genet Metab. 2012 Jan;105(1):16-25. doi: 10.1016/j.ymgme.2011.09.026. Epub 2011 Sep 24. Mol Genet Metab. 2012. PMID: 22000903 Free PMC article. Review.
Neurologic considerations in propionic acidemia.
Schreiber J, Chapman KA, Summar ML, Ah Mew N, Sutton VR, MacLeod E, Stagni K, Ueda K, Franks J, Island E, Matern D, Peña L, Smith B, Urv T, Venditti C, Chakarapani A, Gropman AL. Schreiber J, et al. Among authors: matern d. Mol Genet Metab. 2012 Jan;105(1):10-5. doi: 10.1016/j.ymgme.2011.10.003. Epub 2011 Oct 19. Mol Genet Metab. 2012. PMID: 22078457 Review.
Natural history of propionic acidemia.
Pena L, Franks J, Chapman KA, Gropman A, Ah Mew N, Chakrapani A, Island E, MacLeod E, Matern D, Smith B, Stagni K, Sutton VR, Ueda K, Urv T, Venditti C, Enns GM, Summar ML. Pena L, et al. Among authors: matern d. Mol Genet Metab. 2012 Jan;105(1):5-9. doi: 10.1016/j.ymgme.2011.09.022. Epub 2011 Sep 22. Mol Genet Metab. 2012. PMID: 21986446 Review.
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: matern d. 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
Making Decisions About Krabbe Disease Newborn Screening.
Kurtzberg J, Matern D, Orsini JJ, Gelb M, Pike-Langenfeld S, Brackbill L, Grantham A, Steyermark AC. Kurtzberg J, et al. Among authors: matern d. Pediatrics. 2022 Aug 1;150(2):e2022057888. doi: 10.1542/peds.2022-057888A. Pediatrics. 2022. PMID: 35896799 No abstract available.
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: matern d. 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.
Fatty acid oxidation disorders.
Rinaldo P, Matern D, Bennett MJ. Rinaldo P, et al. Among authors: matern d. Annu Rev Physiol. 2002;64:477-502. doi: 10.1146/annurev.physiol.64.082201.154705. Annu Rev Physiol. 2002. PMID: 11826276 Review.
177 results