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

Year Number of Results
2002 5
2003 7
2004 7
2005 8
2006 6
2007 6
2008 10
2009 3
2010 11
2011 13
2012 11
2013 8
2014 6
2015 5
2016 5
2017 6
2018 7
2019 4
2020 5
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115 results
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Page 1
Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease.
Kwon JM, Matern D, Kurtzberg J, Wrabetz L, Gelb MH, Wenger DA, Ficicioglu C, Waldman AT, Burton BK, Hopkins PV, Orsini JJ. Kwon JM, et al. Among authors: Matern D. Orphanet J Rare Dis. 2018 Feb 1;13(1):30. doi: 10.1186/s13023-018-0766-x. Orphanet J Rare Dis. 2018. PMID: 29391017 Free PMC article. Review.
Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial.
Gillingham MB, Heitner SB, Martin J, Rose S, Goldstein A, El-Gharbawy AH, Deward S, Lasarev MR, Pollaro J, DeLany JP, Burchill LJ, Goodpaster B, Shoemaker J, Matern D, Harding CO, Vockley J. Gillingham MB, et al. Among authors: Matern D. J Inherit Metab Dis. 2017 Nov;40(6):831-843. doi: 10.1007/s10545-017-0085-8. Epub 2017 Sep 4. J Inherit Metab Dis. 2017. PMID: 28871440 Free PMC article. Clinical Trial.
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
Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.
Schiffmann R, Hughes DA, Linthorst GE, Ortiz A, Svarstad E, Warnock DG, West ML, Wanner C; Conference Participants. Schiffmann R, et al. Kidney Int. 2017 Feb;91(2):284-293. doi: 10.1016/j.kint.2016.10.004. Epub 2016 Dec 18. Kidney Int. 2017. PMID: 27998644 Free article.
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.
Reduced active transcellular intestinal oxalate secretion contributes to the pathogenesis of obesity-associated hyperoxaluria.
Amin R, Asplin J, Jung D, Bashir M, Alshaikh A, Ratakonda S, Sharma S, Jeon S, Granja I, Matern D, Hassan H. Amin R, et al. Among authors: Matern D. Kidney Int. 2018 May;93(5):1098-1107. doi: 10.1016/j.kint.2017.11.011. Epub 2018 Feb 1. Kidney Int. 2018. PMID: 29395336 Free PMC article.
Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria.
Majumdar R, Yori A, Rush PW, Raymond K, Gavrilov D, Tortorelli S, Matern D, Rinaldo P, Feldman GL, Oglesbee D. Majumdar R, et al. Among authors: Matern D. Mol Genet Genomic Med. 2017 Nov;5(6):795-799. doi: 10.1002/mgg3.333. Epub 2017 Sep 11. Mol Genet Genomic Med. 2017. PMID: 29178637 Free PMC article.
A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn Screening.
Vidal-Folch N, Milosevic D, Majumdar R, Gavrilov D, Matern D, Raymond K, Rinaldo P, Tortorelli S, Abraham RS, Oglesbee D. Vidal-Folch N, et al. Among authors: Matern D. J Mol Diagn. 2017 Sep;19(5):755-765. doi: 10.1016/j.jmoldx.2017.05.011. J Mol Diagn. 2017. PMID: 28826609 Free article.
115 results
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