1. Compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 cause GM3 synthase deficiency. Issue 2 (29th November 2022) Authors: Rudy, Natasha; Aoki, Kazuhiro; Ananth, Amitha; Holloway, Lynda; Skinner, Cindy; Hurst, Anna; Tiemeyer, Michael; Steet, Richard Journal: JIMD reports Issue: Volume 64:Issue 2(2023) Page Start: 138 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗