Quadros EV, Lai SC, Nakayama Y, Sequeira JM, Hannibal L, Wang S, Jacobsen DW, Fedosov S, Wright E, Gallagher RC, Anastasio N, Watkins D, Rosenblatt DS
Title
Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12).