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Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.
Gallant NM, Leydiker K, Tang H, Feuchtbaum L, Lorey F, Puckett R, Deignan JL, Neidich J, Dorrani N, Chang E, Barshop BA, Cederbaum SD, Abdenur JE, Wang RY. Gallant NM, et al. Among authors: lorey f. Mol Genet Metab. 2012 May;106(1):55-61. doi: 10.1016/j.ymgme.2012.02.007. Epub 2012 Feb 9. Mol Genet Metab. 2012. PMID: 22424739
Newborn screening for SCID identifies patients with ataxia telangiectasia.
Mallott J, Kwan A, Church J, Gonzalez-Espinosa D, Lorey F, Tang LF, Sunderam U, Rana S, Srinivasan R, Brenner SE, Puck J. Mallott J, et al. Among authors: lorey f. J Clin Immunol. 2013 Apr;33(3):540-9. doi: 10.1007/s10875-012-9846-1. Epub 2012 Dec 20. J Clin Immunol. 2013. PMID: 23264026 Free PMC article.
Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards.
Puckett RL, Orsini JJ, Pastores GM, Wang RY, Chang R, Saavedra-Matiz CA, Torres PA, Zeng B, Caggana M, Lorey F, Abdenur JE. Puckett RL, et al. Among authors: lorey f. Mol Genet Metab. 2012 Jan;105(1):126-31. doi: 10.1016/j.ymgme.2011.10.010. Epub 2011 Oct 25. Mol Genet Metab. 2012. PMID: 22115770
78 results