Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan - Okamoto, Nobuhiko; Kadoya, Machiko; Wada, Yoshinao (JIMD reports, 2025)
Keywords: ATP6V0A2‐CDG; Congenital diseases; Glycosylation; NGLY1‐CDDG; PMM2‐CDG; Research Report; SLC35A2‐CDG; Japan; SLC35A2‐CDG; ATP6V0A2‐CDG; NGLY1‐CDDG; PMM2‐CDG