EPISODE · Nov 10, 2023 · 20 MIN

CAD deficiency: Beyond the genetics

from JIMD Podcasts · host Journal of Inherited Metabolic Disease

In an ensemble piece, Dr Saskia Wortmann, Dr Hud Freeze, and Dr Santiago Ramón-Maiques discuss CAD deficiency and the challenge of finding new ways to validate genetic variants when pathogenicity seems uncertain. Beyond genetics: Deciphering the impact of missense variants in CAD deficiency Francisco del Caño-Ochoa, et al https://doi.org/10.1002/jimd.12667