
Titolo | A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation. |
Publication Type | Journal Article |
Authors | Barone, R, Carrozzi, M, Parini, R, Battini, R, Martinelli, D, Elia, M, Spada, M, Lilliu, F, Ciana, G, Burlina, A, Leuzzi, V, Leoni, M, Sturiale, L, Matthijs, G, Jaeken, J, Di Rocco, M, Garozzo, D, Fiumara, A |
PubMed ID | 25355454 |