My primary area of research has been the molecular genetics of inherited metabolic diseases. The selected publications listed below summarize the span of my research interests. I am retired but maintain an interest in the ongoing research activities of my colleagues.
Coulter-Mackie M, White CT, Chew B, Lange D. Primary Hyperoxaluria type 1 (updated June 2014). In:/GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2014. Available at http://www.genetests.org
Coulter-Mackie MB, Tiebout S, van Karnebeek C, Stockler S. Overexpression of recombinant human antiquitin in E. coli: partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy. Mol Gen Metab (2014) 111: 462-466.