日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease?

碱性磷酸酶与婴儿型GM1神经节苷脂沉积症:一种复杂疾病的简单生物标志物?

Fiori, Laura; Turzi, Massimiliano; Tagi, Veronica Maria; Asnaghi, Laura; Bonaventura, Eleonora; Tonduti, Davide; Spaccini, Luigina; Saielli, Laura Assunta; Montanari, Chiara; Cairello, Francesca; Mannarino, Savina; Ferrario, Matilde; Del Longo, Alessandra; Napolitano, Marcello; Righini, Andrea; Semeraro, Michela; Venerando, Anna; Miceli, Martina; Verduci, Elvira; Zuccotti, Gianvincenzo

Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma

疑似原发性先天性青光眼患者中 FOXC1 变异的患病率

Siggs, Owen M; Souzeau, Emmanuelle; Pasutto, Francesca; Dubowsky, Andrew; Smith, James E H; Taranath, Deepa; Pater, John; Rait, Julian L; Narita, Andrew; Mauri, Lucia; Del Longo, Alessandra; Reis, André; Chappell, Angela; Kearns, Lisa S; Staffieri, Sandra E; Elder, James E; Ruddle, Jonathan B; Hewitt, Alex W; Burdon, Kathryn P; Mackey, David A; Craig, Jamie E

Ocular features in mucopolysaccharidosis: diagnosis and treatment

黏多糖贮积症的眼部特征:诊断和治疗

Del Longo, Alessandra; Piozzi, Elena; Schweizer, Fiammetta

Enzymatic replacement therapy for Hunter disease: Up to 9 years experience with 17 patients

亨特氏病酶替代疗法:17 例患者长达 9 年的经验

Parini, Rossella; Rigoldi, Miriam; Tedesco, Lucia; Boffi, Lucia; Brambilla, Alessandra; Bertoletti, Sara; Boncimino, Agata; Del Longo, Alessandra; De Lorenzo, Paola; Gaini, Renato; Gallone, Denise; Gasperini, Serena; Giussani, Carlo; Grimaldi, Marco; Grioni, Daniele; Meregalli, Pamela; Messinesi, Grazia; Nichelli, Francesca; Romagnoli, Marco; Russo, Pierluigi; Sganzerla, Erik; Valsecchi, Grazia; Biondi, Andrea