A new approach to identifying patients with elevated risk for Fabry disease using a machine learning algorithm
December 20, 2021 – Orphanet Journal of Rare Diseases Read the Full Article >> Background Fabry disease (FD) is a rare genetic disorder characterized by glycosphingolipid accumulation and progressive damage across multiple organ systems. Due to its heterogeneous presentation, the condition is likely significantly underdiagnosed. Several approaches, including provider education efforts and newborn screening, have[…]