Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort
先天性糖基化障碍前沿联盟,一项针对自然史队列中 280 名个体进行的第 5 年横断面研究报告
期刊:Molecular Genetics and Metabolism
影响因子:3.5
doi:10.1016/j.ymgme.2024.108509
Lam, Christina; Scaglia, Fernando; Berry, Gerard T; Larson, Austin; Sarafoglou, Kyriakie; Andersson, Hans C; Sklirou, Evgenia; Tan, Queenie K G; Starosta, Rodrigo T; Sadek, Mustafa; Wolfe, Lynne; Horikoshi, Seishu; Ali, May; Barone, Rita; Campbell, Teresa; Chang, Irene J; Coles, Kiaira; Cook, Edward; Eklund, Erik A; Engelhardt, Nicole M; Freeman, Mary; Friedman, Jennifer; Fu, Debbie Y T; Botzo, Grace; Rawls, Brandy; Hernandez, Christien; Johnsen, Christin; Keller, Kierstin; Kramer, Sara; Kuschel, Bryce; Leshinski, Angela; Martinez-Duncker, Ivan; Mazza, Gina L; Mercimek-Andrews, Saadet; Miller, Bradley S; Muthusamy, Karthik; Neira, Juanita; Patterson, Marc C; Pogorelc, Natalie; Powers, Lex N; Ramey, Elizabeth; Reinhart, Michaela; Squire, Audrey; Thies, Jenny; Vockley, Jerry; Vreugdenhil, Hayden; Witters, Peter; Youbi, Mehdi; Zeighami, Aziza; Zemet, Roni; Edmondson, Andrew C; Morava, Eva