Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency
腺苷酸琥珀酸裂解酶缺乏症患者的临床和分子特征
期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-021-01731-6
Mastrogiorgio, Gerarda; Macchiaiolo, Marina; Buonuomo, Paola Sabrina; Bellacchio, Emanuele; Bordi, Matteo; Vecchio, Davide; Brown, Kari Payne; Watson, Natalie Karen; Contardi, Benedetta; Cecconi, Francesco; Tartaglia, Marco; Bartuli, Andrea