1. Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy. Issue 2 (19th December 2022) Authors: Rovelli, Valentina; Cefalo, Graziella; Ercoli, Vittoria; Zuvadelli, Juri; Olivia, Turri; Graziani, Daniela; Luisella, Alberti; Bassi, Davide; Re Dionigi, Alice; Selmi, Raed; Paci, Sabrina; Salvatici, Elisabetta; Banderali, Giuseppe Journal: Endocrinology, diabetes & metabolism Issue: Volume 6:Issue 2(2023) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities. (October 2017) Authors: Accogli, Andrea; Iacomino, Michele; Pinto, Francesca; Orsini, Alessandro; Vari, Maria Stella; Selmi, Raed; Torella, Annalaura; Nigro, Vincenzo; Minetti, Carlo; Severino, Mariasavina; Striano, Pasquale; Capra, Valeria; Zara, Federico Journal: Neurology Issue: Volume 3:Number 5(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗