![Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency]()
Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiencyFitzsimons, Patricia E.; Alston, Charlotte L.; Bonnen, Penelope E.; Hughes, Joanne; Crushell, Ellen; Geraghty, Michael T.; Tetreault, Martine; O'Reilly, Peter; Twomey, Eilish; Sheikh, Yusra; Walsh, Richard; Waterham, Hans R.; Ferdinandusse, Sacha; Wanders, Ronald J. A.; Taylor, Robert W.; Pitt, James J.; Mayne, Philip D. · American Journal of Medical Genetics Part A · 2018