A multiomics approach to understanding pathology of Combined D,L-2- Hydroxyglutaric Aciduria and phenylbutyrate as potential treatment
Yu Leng Phua, Olivia D’Annibale, Anuradha Karunanidhi…·Jerry E. Vockley
This study investigates the pathology of Combined D,L-2-Hydroxyglutaric Aciduria and evaluates phenylbutyrate as a potential treatment through metabolomic and RNA-seq analyses.