1. Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission. Issue 8 (16th June 2021) Authors: Tolomeo, Deborah; Rubegni, Anna; Nesti, Claudia; Barghigiani, Melissa; Battini, Roberta; D'Amore, Francesca; Doccini, Stefano; Donati, Maria Alice; Galatolo, Daniele; Giglio, Sabrina; Guarducci, Silvia; Pantaleo, Marilena; Pasquariello, Rosa; Procopio, Elena; Pochiero, Francesca; Tessa, Alessandr... Journal: Journal of medical genetics Issue: Volume 58:Issue 8(2021) Page Start: 543 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Management of methylmalonic acidemia (MMA) with N‐carbamylglutamate: A case report from Italy. Issue 1 (4th November 2022) Authors: Tubili, Flavia; Pochiero, Francesca; Curcio, Maria Rosaria; Procopio, Elena Journal: Molecular genetics & genomic medicine Issue: Volume 11:Issue 1(2023) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗