基本信息
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职业迁徙
个人简介
I have a strong interest in the diagnosis and management of inborn errors of metabolism, with a particular focus on lysosomal storage disorders (LSD). I have been engaged in most of the clinical trials for LSDs, including enzyme replacement and substrate reduction therapy. Additional expertise in neurogenetics; specifically, the diagnosis of inherited defects involving the nervous system.
研究兴趣
论文共 348 篇作者统计合作学者相似作者
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Orphanet journal of rare diseasesno. 1 (2024)
Expert opinion on drug deliveryno. 6 (2024): 817-828
Karolina M. Stepien, Max Treacy, Roulla Katiri,Eileen P. Treacy,Gregory Pastores, Alison Sheerin, Donal Brosnahan,Ellen Crushell, James J. O’Byrne
Journal of Inborn Errors of Metabolism and Screening (2024)
Sara Cannizzo,Vinciane Quoidbach,Monika Benson,Antonio Federico,Alessandro Filla, Bernadette Sheehan Gilroy,Paola Giunti,Holm Graeßner,Julie Greenfield,Tobias S Hagedorn,Álvaro Hermida,Barry Hunt, Anita McDonald,Francesca Morgante,Wolfgang H. Oertel,Gregory M. Pastores,Martje G. Pauly,Carola Reinhard,Maja Relja,Eileen P. Treacy,Francjan van Spronsen,Julie Vallortigara,Giuseppe Turchetti
Research Square (Research Square) (2023)
Dimitra Khalil Chaity,Conor Fearon,Michael Alexander, J. Walsh,Neil Austin,James J. O’Byrne,Gregory M. Pastores,Áine Merwick,M Saif,Seán O’Dowd
Neurologyno. 22 (2022): 997-1003
Therapeutic advances in rare disease (2021): 263300402110207-263300402110207
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作者统计
#Papers: 347
#Citation: 14198
H-Index: 63
G-Index: 111
Sociability: 7
Diversity: 4
Activity: 3
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