Development of a quantitative real-time PCR-based newborn screening system for citrin deficiency using dried blood spots
Mol Genet Metab. 2026 Mar 27;148(2):109912. doi: 10.1016/j.ymgme.2026.109912. Online ahead of print. ABSTRACT BACKGROUND: Citrin deficiency is an autosomal recessive metabolic disorder caused by pathogenic …