Milder Form of Cobalamin C Disease May Be Missed by Newborn Screening: The Importance of Methylmalonic Acid Assessment
Int J Neonatal Screen. 2025 Sep 12;11(3):77. doi: 10.3390/ijns11030077. ABSTRACT CblC deficiency is the most common intracellular disorder of vitamin B12 metabolism. Expanded newborn screening …