Lethal neonatal acidosis: Multiomic investigation of a novel HIBCH variant as the underlying cause
Mol Genet Metab Rep. 2025 May 1;43:101223. doi: 10.1016/j.ymgmr.2025.101223. eCollection 2025 Jun. ABSTRACT HIBCH (3-Hydroxyisobutyryl-CoA hydrolase) deficiency is a rare, autosomal recessive inborn error of …