1. A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction. Issue 8 (2nd June 2017) Authors: Gold, Wendy A.; Sobreira, Nara; Wiame, Elsa; Marbaix, Alexandre; Van Schaftingen, Emile; Franzka, Patricia; Riley, Lisa G.; Worgan, Lisa; Hübner, Christian A.; Christodoulou, John; Adès, Lesley C. Journal: American journal of medical genetics Issue: Volume 173:Issue 8(2017) Page Start: 2246 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Metabolite proofreading, a neglected aspect of intermediary metabolism. Issue 3 (8th January 2013) Authors: Van Schaftingen, Emile; Rzem, Rim; Marbaix, Alexandre; Collard, François; Veiga‐da‐Cunha, Maria; Linster, Carole L. Journal: Journal of inherited metabolic disease Issue: Volume 36:Issue 3(2013) Page Start: 427 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗