Pubblicazioni

Stroke and stroke-like episodes in inborn errors of metabolism: Pathophysiological and clinical implications

2022 - MOLECULAR GENETICS AND METABOLISM
Mastrangelo, M.; Ricciardi, G.; Giordo, L.; De Michele, M.; Toni, D.; Leuzzi, V.

Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations

2022 - MOLECULAR GENETICS AND METABOLISM
Himmelreich, Nastassja; Montioli, Riccardo; Garbade, Sven F.; Kopesky, Jeffrey; Elsea, Sarah H.; Carducci, Carla; Voltattorni, Carla B.; Blau, Nenad

© Università degli Studi di Roma "La Sapienza" - Piazzale Aldo Moro 5, 00185 Roma