1. Three patients with glycosylation deficiencies, chronically elevated transaminases, and low serum ceruloplasmin and copper, caused by mutations in the gene encoding the transmembrane protein TMEM199. Issue 4 (October 2017) Authors: Poeta, M.; Zielinska, K.; Maccarana, M.; Mandato, C.; Ng, B.G.; Di Nuzzi, A.; D'Acunto, E.; Pierri, L.; Ecklund, E.; Freeze, H.; Vajro, P. Journal: Digestive and liver disease Issue: Volume 49:Issue 4(2017)Supplement Page Start: e249 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗