Ensenauer R, Winters JL, Parton PA, Kronn DF, Kim JW, Matern D, Rinaldo P, Hahn SH. Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification. Genetics in Medicine 2005;7:339-343.
Kramer KA, Oglesbee D, Hartman SJ, Huey J, Anderson B, Magera MJ, Matern D, Rinaldo P, Robinson BH, Cameron JM, Hahn SH. Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts. Clinical Chemistry 2005;51:2110-6
Oglesbee D, Freedenberg D, Kramer KA, Anderson BD, Hahn SH. Normal muscle respiratory chain enzymes can complicate mitochondrial disease diagnosis. Pediatric Neurology 2006 Oct;35(4):289-92
Kroll CA, Mensink K, Jacobson RM, Ferber M, Dawson B, Lorey F, Sherwin J, Cunningham G, Rinaldo P, Matern D, and Hahn SH. A retrospective determination of ceruloplasmin concentration in newborn dried blood spots from patients with Wilson disease. Molecular Genetics and Metabolism 2006 Oct;89:134-8.
Oglesbee D, He M, Majumder N, Vockley J, Ahmad A, Angle B, Burton B, Charrow J, Ensenauer R, Ficicioglu CH, Keppen LD, Marsden D, Tortorelli S, Hahn SH, Matern D. Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. Genetics in Medicine 2007 Feb;9(2):108-116.