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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.
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论文共 351 篇作者统计合作学者相似作者
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Orphanet Journal of Rare Diseasesno. 1 (2024): 1-12
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)
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Therapeutic Advances in Rare Disease (2021): 26330040211020764
Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Diseasepp.461-472, (2020)
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