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Improved standards for prenatal diagnosis of citrullinemia.
Miller MJ, Soler-Alfonso CR, Grund JE, Fang P, Sun Q, Elsea SH, Sutton VR. Miller MJ, et al. Among authors: elsea sh. Mol Genet Metab. 2014 Jul;112(3):205-9. doi: 10.1016/j.ymgme.2014.05.004. Epub 2014 May 16. Mol Genet Metab. 2014. PMID: 24889030
Lysinuric Protein Intolerance Presenting with Multiple Fractures.
Posey JE, Burrage LC, Miller MJ, Liu P, Hardison MT, Elsea SH, Sun Q, Yang Y, Willis AS, Schlesinger AE, Bacino CA, Lee BH. Posey JE, et al. Among authors: elsea sh. Mol Genet Metab Rep. 2014;1:176-183. doi: 10.1016/j.ymgmr.2014.03.004. Mol Genet Metab Rep. 2014. PMID: 25419514 Free PMC article.
Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism.
Miller MJ, Kennedy AD, Eckhart AD, Burrage LC, Wulff JE, Miller LA, Milburn MV, Ryals JA, Beaudet AL, Sun Q, Sutton VR, Elsea SH. Miller MJ, et al. Among authors: elsea sh. J Inherit Metab Dis. 2015 Nov;38(6):1029-39. doi: 10.1007/s10545-015-9843-7. Epub 2015 Apr 15. J Inherit Metab Dis. 2015. PMID: 25875217 Free PMC article.
Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency.
Burrage LC, Sun Q, Elsea SH, Jiang MM, Nagamani SC, Frankel AE, Stone E, Alters SE, Johnson DE, Rowlinson SW, Georgiou G; Members of Urea Cycle Disorders Consortium; Lee BH. Burrage LC, et al. Among authors: elsea sh. Hum Mol Genet. 2015 Nov 15;24(22):6417-27. doi: 10.1093/hmg/ddv352. Epub 2015 Sep 10. Hum Mol Genet. 2015. PMID: 26358771 Free PMC article.
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
Miller MJ, Burrage LC, Gibson JB, Strenk ME, Lose EJ, Bick DP, Elsea SH, Sutton VR, Sun Q, Graham BH, Craigen WJ, Zhang VW, Wong LJ. Miller MJ, et al. Among authors: elsea sh. Mol Genet Metab. 2015 Nov;116(3):139-45. doi: 10.1016/j.ymgme.2015.08.011. Epub 2015 Sep 2. Mol Genet Metab. 2015. PMID: 26385305 Free PMC article.
190 results