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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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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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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Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study

针对庞贝病患儿和成人的居家酶替代疗法：一项前瞻性研究

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-023-02715-4
Ditters, Imke A M; van der Beek, Nadine A M E; Brusse, Esther; van der Ploeg, Ans T; van den Hout, Johanna M P; Huidekoper, Hidde H
发表日期：2023
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Long-term benefits of physical activity in adult patients with late onset Pompe disease: a retrospective cohort study with 10 years of follow-up

体育锻炼对晚发型庞贝病成年患者的长期益处：一项为期10年的回顾性队列研究

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-023-02924-x
Ismailova, Gamida; Wagenmakers, Margreet A E M; Brusse, Esther; van der Ploeg, Ans T; Favejee, Marein M; van der Beek, Nadine A M E; van den Berg, Linda E M
发表日期：2023
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MRI changes in diaphragmatic motion and curvature in Pompe disease over time

庞贝病患者膈肌运动和曲率随时间变化的MRI影像学表现

期刊:European Radiology
影响因子:4.7
doi:10.1007/s00330-022-08940-y
Harlaar, Laurike; Ciet, Pierluigi; van Tulder, Gijs; van Kooten, Harmke A; van der Beek, Nadine A M E; Brusse, Esther; de Bruijne, Marleen; Tiddens, Harm A W M; van der Ploeg, Ans T; van Doorn, Pieter A
发表日期：2022
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Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease

针对重组人α-葡萄糖苷酶的抗体似乎并不影响儿童期发病庞贝病的临床结局。

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-022-02175-2
van Kooten, Harmke A; Ditters, Imke A M; Hoogeveen-Westerveld, Marianne; Jacobs, Edwin H; van den Hout, Johanna M P; van Doorn, Pieter A; Pijnappel, W W M Pim; van der Ploeg, Ans T; van der Beek, Nadine A M E
发表日期：2022
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