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

The CrescNet Registry Achondroplasia Module: Real-World Demographic Data and Clinical Outcomes in Untreated and Vosoritide-Treated Individuals

CrescNet注册软骨发育不全模块：未经治疗和接受Vosoritide治疗的患者的真实世界人口统计数据和临床结果

期刊:Hormone Research in Paediatrics
影响因子:2.7
doi:10.1159/000550795
Mohnike, Klaus; Beger, Christoph; Gausche, Ruth; Hoyer-Kuhn, Heike; Muschol, Nicole; Palm, Katja; Rohrer, Tilman R; Sredkova, Maria; Streata, Ioana; Wechsung, Katja; Woelfle, Joachim; Zeman, Jiří; Eibenstein, Ursula; Pimenta, Jeanne M; Reichert, Anja; Pfäffle, Roland
发育与干细胞
发表日期：2026
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Clinical expert opinion on the role of elosulfase alfa in non-ambulatory individuals with Morquio A syndrome

关于elosulfase alfa在患有Morquio A综合征的非行走患者中的作用的临床专家意见

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2026.101290
de Souza, Carolina F M; Burton, Barbara K; Campeau, Philippe M; Giugliani, Roberto; Guffon, Nathalie; Lampe, Christina; Muschol, Nicole; Sivri, Serap; Solano, Martha; Stepien, Karolina M
发表日期：2026
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Impact of enzyme replacement therapy and migalastat on disease progression in females with fabry disease

酶替代疗法和米格司他对于法布里病女性患者疾病进展的影响

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-025-03600-y
Lenders, Malte; Nowak, Albina; Cybulla, Markus; Kaufeld, Jessica; Köhn, Anja Friederike; Muschol, Nicole Maria; Kurschat, Christine; Brand, Eva
发表日期：2025
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Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient survey

α-甘露糖苷酶缺乏症患者的活动能力、疼痛/不适、自我护理和心理健康状况的变化：一项国际照护者和患者调查

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-025-03694-4
Stepien, Karolina M; Thomas, Sophie; Hennermann, Julia B; Lampe, Christina; Muschol, Nicole M; Ballesta-Martínez, Maria Juliana; Cruz, Jordi; López-Rodríguez, Mónica; Barth, Anneliese; Magner, Martin; Lund, Allan M; Plaiasu, Vasilica; Ballabeni, Andrea; Donà, Francesca; Morgan, Heather M; Guffon, Nathalie
发表日期：2025
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Impact of migalastat on cerebral outcomes in fabry disease - results from the prospective observational FAMOUS trial

米格司他治疗法布里病脑部结局的影响——来自前瞻性观察性FAMOUS试验的结果

期刊:Neurological Research and Practice
影响因子:3.2
doi:10.1186/s42466-025-00440-w
Choudhury, Momoko; Lenders, Malte; Laufer, Pauline; Masthoff, Max; Canaan-Kühl, Sima; Kurschat, Christine; Muschol, Nicole; Hennermann, Julia B; Cybulla, Markus; Kaufeld, Jessica; Brand, Eva; Bischof, Antje
神经科学
发表日期：2025
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Exploring the long-term use of ambroxol in Gaucher disease type 2: insights from two pediatric cases

探讨氨溴索在戈谢病2型中的长期应用：来自两例儿科病例的启示

期刊:Frontiers in Neurology
影响因子:2.8
doi:10.3389/fneur.2025.1690780
Aries, Charlotte; Köhn, Anja; Täuber, Karolin; Rudolph, Cornelia; Böttcher, Tobias; Bauer, Peter; Fischer, Steffen; Muschol, Nicole
发表日期：2025
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A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany

德国慢性酸性鞘磷脂酶缺乏症发病率和死亡率的回顾性研究

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-024-03174-1
Mengel, Eugen; Muschol, Nicole; Weinhold, Natalie; Ziagaki, Athanasia; Neugebauer, Julia; Antoni, Benno; Langer, Laura; Gasparic, Maja; Guillonneau, Sophie; Fournier, Marie; Laredo, Fernando; Pulikottil-Jacob, Ruth
发表日期：2024
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Impact of enzyme replacement therapy on clinical manifestations in females with Fabry disease

酶替代疗法对法布里病女性患者临床表现的影响

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-024-03503-4
Lenders, Malte; Nowak, Albina; Cybulla, Markus; Kaufeld, Jessica; Köhn, Anja Friederike; Muschol, Nicole Maria; Kurschat, Christine; Brand, Eva
发表日期：2024
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Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort

接受酶替代疗法治疗的婴儿期发病庞贝病患者的长期预后——来自德国-奥地利队列的数据

期刊:Journal of Neuromuscular Diseases
影响因子:3.4
doi:10.3233/JND-230164
Pfrimmer, Charlotte; Smitka, Martin; Muschol, Nicole; Husain, Ralf A; Huemer, Martina; Hennermann, Julia B; Schuler, Rahel; Hahn, Andreas
发表日期：2024
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Overexpression of VEGFα as a biomarker of endothelial dysfunction in aortic tissue of α-GAL-Tg/KO mice and its upregulation in the serum of patients with Fabry's disease

VEGFα 在 α-GAL-Tg/KO 小鼠主动脉组织中的过度表达作为内皮功能障碍的生物标志物，以及其在法布里病患者血清中的上调

期刊:Frontiers in Cardiovascular Medicine
影响因子:2.8
doi:10.3389/fcvm.2024.1355033
N Lund, H Wieboldt, L Fischer, N Muschol, F Braun, T Huber, D Sorriento, G Iaccarino, K Müllerleile, E Tahir, G Adam, P Kirchhof, L Fabritz, M Patten
信号转导
IHC
Sheep
IgG
发表日期：2024
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