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Research Interests

Papers共 167 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
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期刊级别
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Natural History and Diagnostic Findings in an Adult Man Diagnosed with Attenuated Krabbe Disease
Eamon P McCarron,Andrew Oldham, Amit Herwadkar,Sarah Jenkinson,Christopher Campbell, Kate Neal,Heather J Church, James A Cooper,Karolina M Stepien
American journal of medical genetics Part Ano. 7 (2025): e64031-e64031
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0
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Perspectives on Long-Term Medical Management of Urea Cycle Disorders: Insights from a Survey of UK Healthcare Professionals
Karolina M. Stepien, Melanie McSweeney, Antonio Ochoa-Ferraro,Roshni Vara, Paul Riley, Megan Smith
Orphanet Journal of Rare Diseasesno. 1 (2025): 1-12
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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
Karolina M. Stepien, Sophie Thomas,Julia B. Hennermann,Christina Lampe, Nicole M. Muschol, Maria Juliana Ballesta-Martínez, Jordi Cruz, Mónica López-Rodríguez, Anneliese Barth,Martin Magner,Allan M. Lund,Vasilica Plaiasu,Andrea Ballabeni, Francesca Donà, Heather M. Morgan,Nathalie Guffon
Orphanet Journal of Rare Diseasesno. 1 (2025): 1-15
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Real-world Clinical Outcomes in Adult Patients with Fabry Disease: A 20-Year Retrospective Observational Cohort Study from a Single Centre
Eamon P McCarron, Rajkumar Chinnadurai, Jonathan Meyer, Thomas Anderson,Karolina M Stepien,Reena Sharma,Peter Woolfson,Ana Jovanovic
Molecular genetics and metabolism reports (2025): 101229-101229
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Molecular Basis of Neurocognitive Dysfunction and Psychosis in Alpha-Mannosidosis
Mollie R. Dewsbury,Iain P. Hargreaves, Heather M. Morgan,Karolina M. Stepien
JOURNAL OF TRANSLATIONAL GENETICS AND GENOMICSno. 2 (2024): 85-101
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Hepatomegaly and Splenomegaly: an Approach to the Diagnosis of Lysosomal Storage Diseases
Teodoro Jerves Serrano,Jessica Gold,James A. Cooper,Heather J. Church,Karen L. Tylee, Hoi Yee Wu, Sun Young Kim,Karolina M. Stepien
Journal of Clinical Medicineno. 5 (2024): 1465-1465
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Author Statistics

#Papers: 167

#Citation: 1742

H-Index: 23

G-Index: 39

Sociability: 7

Diversity: 2

Activity: 37

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  • 导师
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