Inflammation and autophagy impairment in presymptomatic pediatric patients with Fabry disease identified by newborn screening
This study is the first to demonstrate the presence of inflammation and autophagy inhibition in pediatric presymptomatic FD patients. These findings provide new insights into the early pathogenesis of FD and suggest potential biomarkers for disease progression.
Authors
- Elena Porcù (ORCID: https://orcid.org/0000-0003-1311-1079)
- Christian Loro (ORCID: https://orcid.org/0000-0002-5924-2034)
- Leonardo Salviati (ORCID: https://orcid.org/0000-0001-5642-9963)
- Alberto B. Burlina
- Vincenza Gragnaniello
- Daniela Gueraldi
- Chiara Cazzorla
- Alessandro P. Burlina
Institutions
- University of Padua (IT)
- Ospedale San Bassiano (IT)
Publication Details
- Journal
- Molecular Genetics and Metabolism
- Published
- 2026-03-17
- DOI
- https://doi.org/10.1016/j.ymgme.2026.109908
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00