Very mild isolated intellectual disability caused by adenylosuccinate lyase deficiency: a new phenotype

by Marina Macchiaiolo, Paola Sabrina Buonuomo, Gerarda Mastrogiorgio, Matteo Bordi, Beatrice Testa, Gerrit Weber, Emanuele Bellacchio, Marco Tartaglia, Francesco Cecconi, Andrea Bartuli
Published 2020-06-01

Vascular Birthmarks as a Clue for Complex and Syndromic Vascular Anomalies

by Andrea Diociaiuti, Guglielmo Paolantonio, Mario Zama, Rita Alaggio, Claudia Carnevale, Andrea Conforti, Claudia Cesario, Maria Lisa Dentici, Paola Sabrina Buonuomo, Massimo Rollo, May El Hachem
Published 2021-10-01

Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency

by Gerarda Mastrogiorgio, Marina Macchiaiolo, Paola Sabrina Buonuomo, Emanuele Bellacchio, Matteo Bordi, Davide Vecchio, Kari Payne Brown, Natalie Karen Watson, Benedetta Contardi, Francesco Cecconi, Marco Tartaglia, Andrea Bartuli
Published 2021-03-01

Highlighting the bone cells alterations in Gorham-Stout Disease

by Michela Rossi, Ippolita Rana, Giulia Battafarano, Eda Mariani, Viviana De Martino, Rita De Vito, Matteo D'Agostini, Marina Macchiaiolo, Michaela V. Gonfiantini, Alessandro Jenkner, Paola Sabrina Buonuomo, Andrea Bartuli, Andrea Del Fattore
Published 2020-10-01

Stimulation of Treg Cells to Inhibit Osteoclastogenesis in Gorham-Stout Disease

by Michela Rossi, Ippolita Rana, Paola Sabrina Buonuomo, Giulia Battafarano, Viviana De Martino, Matteo D’Agostini, Ottavia Porzio, Ottavia Porzio, Cristiana Cipriani, Salvatore Minisola, Rita De Vito, Davide Vecchio, Michaela Veronika Gonfiantini, Alessandro Jenkner, Andrea Bartuli, Andrea Del Fattore
Published 2021-08-01