1. Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency. Issue 5 (25th March 2018) Authors: Fitzsimons, 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, J... Journal: American journal of medical genetics Issue: Volume 176:Issue 5(2018) Page Start: 1115 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. P115 Ovarian torsion in children: case report and discussion. (June 2019) Authors: Stroiescu, Andreea; Byrne, Caoimhe; Hennebry, Jennifer; Bolger, Mark; Sheikh, Yusra; Stepien, Julita Journal: Archives of disease in childhood Issue: Volume 104:(2019)Supplement 3 Page Start: A202 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗