A multi-center retrospective chart analysis identifying clinical, biochemical, and radiographic signatures of short-chain enoyl-CoA hydratase (ECHS1) deficiency
Christine Kong, Cesar Alves, George-Friedrich Vogel…·Rebecca D Ganetzky
This study identifies clinical, biochemical, and radiographic features of ECHS1 deficiency through a multi-center retrospective analysis of 113 patients, highlighting differences in onset and outcomes across age groups.