Rody Cox, M.D. Titles and Appointments Professor Emeritus Endowed Title Distinguished Teaching Professor School Medical School Department Internal Medicine Education Medical School University of Pennsylvania (1952) Research Interest Human Genetics Internal Medicine Mammalian Cell Regulatory Mechanisms Somatic Cell Genetics Publications Featured Publications Maple Syrup Urine Disease: Clinical and BIochemical Perspectives David T. Chuang, Jacinta L. Chuang, and Rody P. Cox Molecular and Genetic Basis of Neurologic Diseases 2003 Identification of the alpha aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia Sacksteder, KA, et al. Am J Hum Genet 2000 66 1736-1743 Characterization of the gene encoding alpha-aminoadipic semialdehyde synthase Sacksteder KA et al. Am J Hum Genet 1999 65 (suppl) 429A Impaired assembly of E1 decarboxylaseof the branched-chain alpha-ketoacid dehydrogenase complex in type 1A maple syrup urine disease Wynn RM et al. J Biol Chem 1998 273 13110-13118 Molecular genetic basis of TYpe II maple syrup urine disease. Novel splicing errors caused by deletionsof internal intronic segments in E2 gene and correlations with thiamine-responsive phenotype Chuang JL, Cox RP, Chuang DT J Clin Invest 1977 100 736-744 Results 1-5 of 5 1 Professional Associations/Affiliations American Clinical and Climatological Association American Society for Clinical Investibation American Society for Human Genetics Association of American Physicians Interurban Clinical Club
