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

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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Clinical Outcomes and Management in Late Diagnosed Siblings Affected With Attenuated GSD Ib

晚期诊断的患有轻型糖原贮积症 Ib 型的同胞的临床结果和管理

期刊:JIMD Reports
影响因子:1.8
doi:10.1002/jmd2.70079
Lynch, Gregory; Woodall, Alison; Dawson, Charlotte; Newsome, Philip; Veiga-da-Cunha, Maria; Stepien, Karolina M
发表日期：2026
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Polymorphic Variants of Peptidylarginine Deiminase Gene from P. gingivalis-Searching for Targets for Supportive Therapy of Periodontitis

牙龈卟啉单胞菌肽基精氨酸脱亚胺酶基因的多态性变异——寻找牙周炎支持治疗的靶点

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms26041662
Strzelec, Karolina; Dziedzic-Kowalska, Agata; Sieron, Łukasz; Bereta, Grzegorz P; Stepien, Karolina L; Ferenc, Klara; Łazarz-Bartyzel, Katarzyna; Olszewska-Czyż, Iwona; Rąpalska, Iwona; Aptekorz, Małgorzata; Kaczmarzyk, Tomasz; Cześnikiewicz-Guzik, Marta; Gawron, Katarzyna
发表日期：2025
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Health and well-being of maturing adults with classic galactosemia

经典型半乳糖血症成年患者的健康和福祉

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.12786
Garrett, Olivia S; Druss, Jared J; Vos, E Naomi; Fu, Yu-Ting Debbie; Lucia, Stephanie; Greenstein, Patricia E; Bauer, Anna; Sykut-Cegielska, Jolanta; Stepien, Karolina M; Arbuckle, Cameron; Grafakou, Olga; Meyer, Uta; Vanhoutvin, Nele; Pané, Adriana; Bosch, Annet M; Rubio-Gozalbo, Estela; Berry, Gerard T; Fridovich-Keil, Judith L
发表日期：2025
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Expanding the Phenotype Spectrum of β-Mannosidosis

扩展β-甘露糖苷酶缺乏症的表型谱

期刊:Neurology-Genetics
影响因子:3.7
doi:10.1212/NXG.0000000000200317
Martin Rios, Angela M; Gibbs, Liliane H; Stepien, Karolina M; Hall, Katherine; Hall, Patricia L; Bentz Pino, Gisele; Wang, Raymond Yu-Jeang; Pillai, Nishitha R; Lund, Troy; Orchard, Paul J; Kimonis, Virginia E
发表日期：2025
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Perspectives on long-term medical management of urea cycle disorders: insights from a survey of UK healthcare professionals

关于尿素循环障碍长期药物治疗的观点：来自英国医疗保健专业人员调查的见解

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-025-03647-x
Stepien, Karolina M; McSweeney, Melanie; Ochoa-Ferraro, Antonio; Vara, Roshni; Riley, Paul; Smith, Megan
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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Long-term outcomes of elosulfase alfa enzyme replacement therapy in adults with MPS IVA: a sub-analysis of the Morquio A Registry Study (MARS)

MPS IVA 成人患者接受 elosulfase alfa 酶替代疗法的长期疗效：Morquio A 注册研究 (MARS) 的亚组分析

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-025-04064-w
Stepien, Karolina M; Burton, Barbara K; Bober, Michael B; Campeau, Philippe M; Ellaway, Carolyn; Bhattacharya, Kaustuv; Guffon, Nathalie; Hinds, David; Hunt, Abigail; Lail, Alice; Lin, Shuan-Pei; Magner, Martin; Murphy, Elaine; Reisewitz, Pascal; Mitchell, John J
发表日期：2025
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Secondary Mitochondrial Dysfunction in Gaucher Disease Type I, II and III-Review of the Experimental and Clinical Evidence

戈谢病I、II和III型继发性线粒体功能障碍——实验和临床证据综述

期刊:Genes
影响因子:2.8
doi:10.3390/genes16111269
Dewsbury, Mollie; Purcell, Tyler; Hughes, Derralynn; Donald, Aimee; Hargreaves, Iain P; Stepien, Karolina M
线粒体
发表日期：2025
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Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders

高度减退性溶酶体贮积症的遗传学见解和诊断挑战

期刊:Genes
影响因子:2.8
doi:10.3390/genes16080915
Urizar, Elena; McCarron, Eamon P; Gadepalli, Chaitanya; Bentley, Andrew; Woolfson, Peter; Lin, Siying; Iosifidis, Christos; Browning, Andrew C; Bassett, John; Senarathne, Udara D; Indika, Neluwa-Liyanage R; Church, Heather J; Cooper, James A; Menendez Lorenzo, Jorge; Farrugia, Maria Elena; Jones, Simon A; Black, Graeme C; Stepien, Karolina M
发表日期：2025
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