Thiamine-responsive maple syrup urine disease missed by newborn screen: A case report
Mol Genet Metab Rep. 2025 Aug 7;44:101244. doi: 10.1016/j.ymgmr.2025.101244. eCollection 2025 Sep. ABSTRACT Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder …