Characterization of the only frequently recurrent mutation in carbamoyl phosphate synthetase 1 deficiency


LIYAN H., DIEZFERNANDEZ C., VERONIQUE R., SOYUÇEN E., ÇOKER M., BAYRAKTAR T., ...More

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, 2 - 05 September 2014

  • Publication Type: Conference Paper