Outcomes of cases with elevated 3-hydroxyisovaleryl carnitine report from the newborn screening program
Mol Genet Metab Rep. 2024 Oct 13;41:101153. doi: 10.1016/j.ymgmr.2024.101153. eCollection 2024 Dec. ABSTRACT BACKGROUND: Elevated plasma levels of 3-hydroxyisovaleryl-carnitine (C5OH) and impaired leucine catabolism are …