Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) Causes a Novel Congenital Disorder of Glycosylation Type IjXiaohua Wu, Hudson H. Freeze, Reid Gilmore et al.|Human Mutation|2003Cited by 144
Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophyAmy Yang, Lakshmi Mehta, Bobby G. Ng et al.|Molecular Genetics and Metabolism|2013Cited by 85
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported PatientsBobby G. Ng, Éric Vilain, Sergey A. Shiryaev et al.|Human Mutation|2016Cited by 58