Publications

• Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
  J Inherit Metab Dis Volume: 43 Page(s): 1333 - 1348
  11/01/2020 Authors: Ng BG; Eklund EA; Shiryaev SA; Dong YY; Abbott M-A; Asteggiano C; Bamshad MJ; Barr E; Bernstein JA; Chelakkadan S