BRUSCHI, FABIO
BRUSCHI, FABIO
Dipartimento di Scienze Biomediche e Cliniche
Dietary pattginern and nutritional assessment in a cohort of mothers identified by neonatal screening for cobalamin deficiency in offspring: an Italian single center experience
2025 M. Tosi, V.M. Tagi, A. Colombo, A. Cecchini, M. Zobele, C. Montanari, S. Ferraro, A. Bosetti, E. Bonaventura, F. Bruschi, D. De Zan, G. Fiore, C. Cereda, G. Zuccotti, E. Verduci
Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study
2025 E. Bonaventura, F. Bruschi, L. Alberti, C. Antonello, F. Arrigoni, M. Balestriero, B. Borsani, L. Cappelletti, E. Cattaneo, M. Ferrario, G. Fiore, M. Iascone, G. Izzo, S. Lucchi, C. Parazzini, M. Perrone Donnorso, L. Spaccini, Y. Vaia, P. Veggiotti, E. Verduci, G. Zuccotti, C. Cereda, D. Tonduti, X. Study Group
Telemedicine for Personalized Nutritional Intervention of Rare Diseases: A Narrative Review on Approaches, Impact, and Future Perspectives
2025 F. Eletti, V.M. Tagi, I.P. Greco, E. Stucchi, G. Fiore, E. Bonaventura, F. Bruschi, D. Tonduti, E. Verduci, G. Zuccotti
Microbiota gut-brain axis : implications for pediatric-onset leukodystrophies
2024 Y. Vaia, F. Bruschi, V.M. Tagi, M. Tosi, C. Montanari, G. Zuccotti, D. Tonduti, E. Verduci
Transcriptional profiling and functional characterization of 3 patient-derived skin fibroblasts affected by Allan-Herndon-Dudley syndrome
2024 L. Esposito, F. Rey, E. Maghraby, L. Messa, M. Elli, F. Bruschi, G. Zuccotti, D. Tonduti, S. Carelli, C. Cereda
Transcriptional profiling and functional characterization of three genetic variants in SLC16A2 gene
2024 L. Esposito, F. Rey, E. Maghraby, L. Messa, M. Elli, F. Bruschi, G. Zuccotti, L. Alberti, D. Tonduti, S. Carelli, C. Cereda
Functional characterization and transcriptional profiling of fibroblasts from patients with mutations in SLC16A2 gene
2024 L. Esposito, F. Rey, E. Maghraby, L. Messa, F. Bruschi, G. Zuccotti, D. Tonduti, S. Carelli, C. Cereda
Disturbi della sintesi della Prolina: caratterizzazione clinica e strumentale della Leucoencefalopatia correlata a PYCR2
2024 Y. Vaia, E. Mura, F. Bruschi, E. Bonaventura, M. Iascone, S. Gabbiadini, F. Arrigoni, C. Parazzini, D. Tonduti
ELOVL1 nella biosintesi degli acidi grassi: studio di un paziente con una mutazione de novo
2024 Y. Vaia, E. Mura, F. Bruschi, E. Bonaventura, C. Parazzini, D. Tonduti
Epilepsy in adult patients with tuberous sclerosis complex
2021 A. Vignoli, F. La Briola, K. Turner, A. Peron, C. Vannicola, V. Chiesa, E. Zambrelli, F. Bruschi, I. Viganò, M.P. Canevini
Tuberous sclerosis complex (TSC), lymphangioleiomyomatosis, and COVID-19 : the experience of a TSC clinic in Italy
2020 A. Peron, F. La Briola, F. Bruschi, S. Terraneo, C. Vannicola, R. Previtali, S. Perazzoli, E. Morenghi, G. Bulfamante, A. Vignoli, M.P. Canevini