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

Adults With Acid Sphingomyelinase Deficiency Have Sustained Improvements in Clinical Outcomes With up to 5 Years of Olipudase Alfa Enzyme Replacement Therapy: ASCEND Trial Final Results

接受奥利普达酶α酶替代疗法长达5年的治疗，酸性鞘磷脂酶缺乏症成年患者的临床疗效持续改善：ASCEND试验最终结果

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.70192
Wasserstein, Melissa P; Hollak, Carla E; Barbato, Antonio; Gallagher, Renata C; Giugliani, Roberto; Guelbert, Norberto Bernardo; Hennermann, Julia B; Ikezoe, Takayuki; Lachmann, Robin; Lidove, Olivier; Mabe, Paulina; Mengel, Eugen; Scarpa, Maurizio; Senates, Ebubekir; Tchan, Michel; Thurberg, Beth L; Villarrubia, Jesus; Armstrong, Nicole M; Bhushan, Shashi; Kim, Yong; Kumar, Monica
ASC
发表日期：2026
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A novel CD71 Centyrin:Gys1 siRNA conjugate reduces glycogen synthesis and glycogen levels in a mouse model of Pompe disease

一种新型 CD71 Centyrin:Gys1 siRNA 缀合物可降低庞贝病小鼠模型中的糖原合成和糖原水平。

期刊:Molecular Therapy
影响因子:12
doi:10.1016/j.ymthe.2024.11.033
Holt, Bryce D; Elliott, Samuel J; Meyer, Rebecca; Reyes, Daniela; O'Neil, Karyn; Druzina, Zhanna; Kulkarni, Swapnil; Thurberg, Beth L; Nadler, Steven G; Pederson, Bartholomew A
CD71
CD7
发表日期：2025
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Acid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individuals

酸性鞘磷脂酶缺乏症和戈谢病：瘦人出现肝肿大、脾肿大和低高密度脂蛋白胆固醇的常见原因，但往往诊断不足且可治疗。

期刊:Hepatology Communications
影响因子:4.6
doi:10.1097/HC9.0000000000000621
Mistry, Pramod K; Cassiman, David; Jones, Simon A; Lachmann, Robin; Lukina, Elena; Prada, Carlos E; Wasserstein, Melissa P; Thurberg, Beth L; Foster, Meredith C; Patel, Reema M; Underhill, Lisa H; Peterschmitt, M Judith
代谢
发表日期：2025
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The impact of sphingomyelin on the pathophysiology and treatment response to olipudase alfa in acid sphingomyelinase deficiency

鞘磷脂对酸性鞘磷脂酶缺乏症的病理生理学及奥利普酶α治疗反应的影响

期刊:Genetics in Medicine Open
影响因子:
doi:10.1016/j.gimo.2024.101888
Kumar, Monica; Aguiar, Mario; Jessel, Andreas; Thurberg, Beth L; Underhill, Lisa; Wong, Holly; George, Kelly; Davidson, Vanessa; Schuchman, Edward H
发表日期：2024
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Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study

Venglustat，一种口服葡糖基神经酰胺合成酶抑制剂：一项开放标签的 II 期研究及其扩展研究，对患有经典法布里病的成年男性进行了为期 3 年的评估。

期刊:Molecular Genetics and Metabolism
影响因子:3.5
doi:10.1016/j.ymgme.2022.11.002
Deegan, Patrick B; Goker-Alpan, Ozlem; Geberhiwot, Tarekegn; Hopkin, Robert J; Lukina, Elena; Tylki-Szymanska, Anna; Zaher, Atef; Sensinger, Charlotte; Gaemers, Sebastiaan J M; Modur, Vijay; Thurberg, Beth L; Sharma, Jyoti; Najafian, Behzad; Mauer, Michael; DasMahapatra, Pronabesh; Wilcox, William R; Germain, Dominique P
发表日期：2023
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Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial

接受奥利普达酶α治疗长达2年的成人酸性鞘磷脂酶缺乏症患者的疾病表现持续改善：ASCEND试验的开放标签扩展研究

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-023-02983-0
Wasserstein, Melissa P; Lachmann, Robin; Hollak, Carla; Barbato, Antonio; Gallagher, Renata C; Giugliani, Roberto; Guelbert, Norberto Bernardo; Hennermann, Julia B; Ikezoe, Takayuki; Lidove, Olivier; Mabe, Paulina; Mengel, Eugen; Scarpa, Maurizio; Senates, Ebubekir; Tchan, Michel; Villarrubia, Jesus; Thurberg, Beth L; Yarramaneni, Abhimanyu; Armstrong, Nicole M; Kim, Yong; Kumar, Monica
ASC
发表日期：2023
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Autopsy pathology of infantile neurovisceral ASMD (Niemann-Pick Disease type A): Clinicopathologic correlations of a case report

婴儿神经内脏ASMD（A型尼曼-匹克病）的尸检病理学：一例病例报告的临床病理相关性分析

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2020.100626
Thurberg, Beth L
发表日期：2020
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Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies

法布里病：四例脑膜瘤病例报告及其他恶性肿瘤文献综述

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2016.09.005
Thurberg, Beth L; Germain, Dominique P; Perretta, Fernando; Jurca-Simina, Iulia E; Politei, Juan M
肿瘤
肿瘤免疫
神经科学
发表日期：2017
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Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency

酸性鞘磷脂酶缺乏症患者体内奥利普酶α剂量递增的成功案例

期刊:Molecular Genetics and Metabolism
影响因子:3.5
doi:10.1016/j.ymgme.2015.05.013
Wasserstein, Melissa P; Jones, Simon A; Soran, Handrean; Diaz, George A; Lippa, Natalie; Thurberg, Beth L; Culm-Merdek, Kerry; Shamiyeh, Elias; Inguilizian, Haig; Cox, Gerald F; Puga, Ana Cristina
发表日期：2015
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Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial

对参与一项随机临床试验的未经治疗的法布里病男性儿童患者早期疾病状态进行表征

期刊:PLoS One
影响因子:2.6
doi:10.1371/journal.pone.0124987
Wijburg, Frits A; Bénichou, Bernard; Bichet, Daniel G; Clarke, Lorne A; Dostalova, Gabriela; Fainboim, Alejandro; Fellgiebel, Andreas; Forcelini, Cassiano; An Haack, Kristina; Hopkin, Robert J; Mauer, Michael; Najafian, Behzad; Scott, C Ronald; Shankar, Suma P; Thurberg, Beth L; Tøndel, Camilla; Tylki-Szymańska, Anna; Ramaswami, Uma
发表日期：2015
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