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. Mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations. Issue 3 (16th December 2014) Authors: Pitt, James J.; Peters, Heidi; Boneh, Avihu; Yaplito‐Lee, Joy; Wieser, Stefanie; Hinderhofer, Katrin; Johnson, David; Zschocke, Johannes Journal: Journal of inherited metabolic disease Issue: Volume 38:Issue 3(2015) Page Start: 459 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Screening for cerebrotendinous xanthomatosis. Issue 2 (19th September 2014) Authors: Pitt, James J.; Peters, Heidi Journal: Journal of inherited metabolic disease Issue: Volume 38:Issue 2(2015) Page Start: 369 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗