1. Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency. Issue 6 (3rd October 2022) Authors: Arribas-Carreira, Laura; Dallabona, Cristina; Swanson, Michael A; Farris, Joseph; Østergaard, Elsebet; Tsiakas, Konstantinos; Hempel, Maja; Aquaviva-Bourdain, Cecile; Koutsoukos, Stefanos; Stence, Nicholas V; Magistrati, Martina; Spector, Elaine B; Kronquist, Kathryn; Christensen, Mette; Karstens... Journal: Human molecular genetics Issue: Volume 32:Issue 6(2023) Page Start: 917 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗