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

Can Alpha-Glucosidase Activity in Plasma or Leukocytes Serve as a Biomarker for Future Gene Therapy in Classic Infantile Pompe Disease?

血浆或白细胞中的α-葡萄糖苷酶活性能否作为经典婴儿型庞贝病未来基因治疗的生物标志物？

期刊:BioDrugs
影响因子:6.9
doi:10.1007/s40259-025-00757-7
Faraguna, Martha C; Lambregts, Daniël A M; Barzel, Ina; Jacobs, Ed H; Hoogeveen-Westerveld, Marianne; van der Beek, Nadine A M E; Pijnappel, W W M Pim; Gasperini, Serena; Preijers, Tim; van den Hout, Johanna M P; van der Ploeg, Ans T
细胞生物学
基因治疗
发表日期：2026
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Correction: Can Alpha-Glucosidase Activity in Plasma or Leukocytes Serve as a Biomarker for Future Gene Therapy in Classic Infantile Pompe Disease?

更正：血浆或白细胞中的α-葡萄糖苷酶活性能否作为经典婴儿型庞贝病未来基因治疗的生物标志物？

期刊:BioDrugs
影响因子:6.9
doi:10.1007/s40259-025-00760-y
Faraguna, Martha C; Lambregts, Daniël A M; Barzel, Ina; Jacobs, Ed H; Hoogeveen-Westerveld, Marianne; van der Beek, Nadine A M E; Pijnappel, W W M Pim; Gasperini, Serena; Preijers, Tim; van den Hout, Johanna M P; van der Ploeg, Ans T
细胞生物学
基因治疗
发表日期：2026
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Miglustat: a first-in-class enzyme stabilizer for cipaglucosidase alfa for the treatment of late-onset Pompe disease

米格鲁司他：一种用于治疗晚发型庞贝病的西帕葡萄糖苷酶α的首创酶稳定剂

期刊:Therapeutic Advances in Rare Disease
影响因子:
doi:10.1177/26330040261425686
Hopkin, Robert J; Byrne, Barry J; Dimachkie, Mazen M; Kishnani, Priya S; Mozaffar, Tahseen; Roberts, Mark; Schoser, Benedikt; van der Beek, Nadine A M E; van der Ploeg, Ans T; Wenninger, Stephan; Brudvig, Jon; Fox, Brian; Holdbrook, Fred; Jain, Vipul; Johnson, Franklin; Zhang, Jennifer; Parenti, Giancarlo
发表日期：2026
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Domain-substituted IGF2 tag modulates targeting of lentiviral gene therapy for Hunter syndrome.

结构域替换的IGF2标签调节慢病毒基因疗法对亨特综合征的靶向治疗。

期刊:EMBO Molecular Medicine
影响因子:8.3
doi:10.1038/s44321-025-00314-3
Catalano Fabio, Stevic Dejan, Zundo Giacomo, Huizer Tessa F, Dammou Zina, Vlaar Eva C, Katsavelis Drosos, van den Bosch Jeroen C, van den Hout Hannerieke J M P, Oussoren Esmeralda, van der Ploeg Ans T, Ruijter George J G, Schaaf Gerben, Pijnappel W W M Pim
微生物学
发表日期：2025
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Correction: Changes in forced vital capacity over ≤ 13 years among patients with late-onset Pompe disease treated with alglucosidase alfa: new modeling of real-world data from the Pompe Registry

更正：接受阿糖苷酶α治疗的晚发型庞贝病患者在≤13年内用力肺活量的变化：来自庞贝病登记处真实世界数据的新模型

期刊:Journal of Neurology
影响因子:4.6
doi:10.1007/s00415-025-13147-4
Berger, Kenneth I; Chien, Yin-Hsiu; Dubrovsky, Alberto; Kishnani, Priya S; Llerena, Juan C Jr; Neilan, Edward; Roberts, Mark; Sheng, Bun; Batista, Julie L; Periquet, Magali; Wilson, Kathryn M; van der Ploeg, Ans T
发表日期：2025
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Real-world evidence for Pompe disease remains fragmented. Comment on "A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem" by Klein et al

关于庞贝氏症的真实世界证据仍然零散。请对Klein等人发表的题为“罕见的伙伴关系：患者群体与产业界的合作，共同塑造真实世界证据对罕见病生态系统的影响”的文章发表评论。

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-025-03552-3
Kruijshaar, Michelle E; House, Tiffany; Schoser, Benedikt; Laforêt, Pascal; Theunissen, Maudy T M; Wenninger, Stephan; Hundsberger, Thomas; Diaz-Manera, Jordi; van der Ploeg, Ans T; van der Beek, Nadine A M E
发表日期：2025
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The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)

欧洲代谢疾病参考网络（MetabERN）庞贝病（酸性麦芽糖酶缺乏症，II型糖原贮积症）临床路径建议

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-024-03373-w
Parenti, Giancarlo; Fecarotta, Simona; Alagia, Marianna; Attaianese, Federica; Verde, Alessandra; Tarallo, Antonietta; Gragnaniello, Vincenza; Ziagaki, Athanasia; Guimaraes, Maria Jose'; Aguiar, Patricio; Hahn, Andreas; Azevedo, Olga; Donati, Maria Alice; Kiec-Wilk, Beata; Scarpa, Maurizio; van der Beek, Nadine A M E; Del Toro Riera, Mireja; Germain, Dominique P; Huidekoper, Hidde; van den Hout, Johanna M P; van der Ploeg, Ans T
代谢
发表日期：2024
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Lentiviral Gene Therapy for Mucopolysaccharidosis II with Tagged Iduronate 2-Sulfatase Prevents Life-Threatening Pathology in Peripheral Tissues But Fails to Correct Cartilage

利用标记的艾杜糖醛酸-2-硫酸酯酶进行粘多糖贮积症II型的慢病毒基因治疗可预防外周组织中危及生命的病变，但无法纠正软骨病变。

期刊:Human Gene Therapy
影响因子:
doi:10.1089/hum.2023.177
Catalano, Fabio; Vlaar, Eva C; Dammou, Zina; Katsavelis, Drosos; Huizer, Tessa F; Zundo, Giacomo; Hoogeveen-Westerveld, Marianne; Oussoren, Esmeralda; van den Hout, Hannerieke J M P; Schaaf, Gerben; Pike-Overzet, Karin; Staal, Frank J T; van der Ploeg, Ans T; Pijnappel, W W M Pim
微生物学
基因治疗
发表日期：2024
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Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial

阿伐葡萄糖苷酶α治疗晚发型庞贝病患者97周后的疗效和安全性：一项3期随机临床试验

期刊:Jama Neurology
影响因子:21.3
doi:10.1001/jamaneurol.2023.0552
Kishnani, Priya S; Diaz-Manera, Jordi; Toscano, Antonio; Clemens, Paula R; Ladha, Shafeeq; Berger, Kenneth I; Kushlaf, Hani; Straub, Volker; Carvalho, Gerson; Mozaffar, Tahseen; Roberts, Mark; Attarian, Shahram; Chien, Yin-Hsiu; Choi, Young-Chul; Day, John W; Erdem-Ozdamar, Sevim; Illarioshkin, Sergey; Goker-Alpan, Ozlem; Kostera-Pruszczyk, Anna; van der Ploeg, Ans T; An Haack, Kristina; Huynh-Ba, Olivier; Tammireddy, Swathi; Thibault, Nathan; Zhou, Tianyue; Dimachkie, Mazen M; Schoser, Benedikt
发表日期：2023
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Home-Based Infusion of Alglucosidase Alfa Can Safely be Implemented in Adults with Late-Onset Pompe Disease: Lessons Learned from 18,380 Infusions

居家输注阿糖苷酶α可安全用于治疗晚发型庞贝病成人患者：18380例输注的经验教训

期刊:BioDrugs
影响因子:6.9
doi:10.1007/s40259-023-00609-2
Ditters, Imke A M; van Kooten, Harmke A; van der Beek, Nadine A M E; Hardon, Jacqueline F; Ismailova, Gamida; Brusse, Esther; Kruijshaar, Michelle E; van der Ploeg, Ans T; van den Hout, Johanna M P; Huidekoper, Hidde H
发表日期：2023
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