1. Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay. Issue 3 (2nd March 2017) Authors: Reid, Emma S.; Williams, Hywel; Anderson, Glenn; Benatti, Malika; Chong, Kling; James, Chela; Ocaka, Louise; Hemingway, Cheryl; Little, Daniel; Brown, Richard; Parker, Alasdair; Holden, Simon; Footitt, Emma; Rahman, Shamima; Gissen, Paul; Mills, Philippa B.; Clayton, Peter T. Journal: Journal of inherited metabolic disease Issue: Volume 40:Issue 3(2017) Page Start: 385 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗