Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening

2026-04-17T13:24:54Z

Author(s):

Alfardan, J., Mohsen, A.-w., Copeland, S., Ellison, J., Keppen-davis, L., Rohrbach, M., Powell, B.R., Gillis, J., Matern, D., Kant, J., and Vockley, J.

Format:

Journal article

Citation:

Molecular Genetics And Metabolism, Volume 100, Issue 4 (2010). pp. 333-338.