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Bio
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.
Research Interests
Papers共 369 篇Author StatisticsCo-AuthorSimilar Experts
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Sara Cannizzo,Vinciane Quoidbach,Paola Giunti, Wolfgang Oertel,Gregory Pastores,Maja Relja,Giuseppe Turchetti
Orphanet Journal of Rare Diseasesno. 1 (2024): 1-12
David Begley, Reinhard Gabathuler,Gregory Pastores, Angeles Garcia-Cazorla, Diego Ardigò,Maurizio Scarpa,Rosella Tomanin,Giovanni Tosi
Expert opinion on drug deliverypp.1-12, (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,
Research Square (Research Square) (2023)
Lysosomal Storage Disorderspp.98-103, (2022)
Dimitra Khalil Chaity,Conor Fearon,Michael Alexander, John Walsh, Neil Austin,James O'Byrne,Gregory Pastores,Aine Merwick, Muhammad Saif,Sean O'Dowd
NEUROLOGYno. 22 (2022): 997-1003
Therapeutic Advances in Rare Disease (2021): 26330040211020764
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