Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort

作者：Christina Lam, Fernando Scaglia, Gerard T. Berry, Austin Larson, Kyriakie Sarafoglou, Hans C. Andersson, Evgenia Sklirou, Queenie K.‐G. Tan, Rodrigo Tzovenos Starosta, Mustafa Sadek, Lynne A. Wolfe, Seishu Horikoshi, M. Nadir Ali, Rita Barone, Teresa Campbell, Irene J. Chang, K Coles, Edward Cook, Erik A. Eklund, Nicole Engelhardt, Mary C. Freeman, Jennifer Friedman, Debbie Y T Fu, Grace Botzo, Brandy Rawls, Christien Hernandez, Christin Johnsen, Kierstin Keller, Sara Kramer, Bryce Kuschel, Angela Leshinski, Iván Martínez-Duncker, Gina L. Mazza, Saadet Mercimek‐Andrews, Bradley S. Miller, Karthik Muthusamy, Juanita Neira, Marc C. Patterson, Natalie Pogorelc, Lex N. Powers, Elizabeth Ramey, Michaela Reinhart, Audrey Squire, Jenny Thies, Jerry Vockley, Hayden Vreugdenhil, Peter Witters, Mehdi Youbi, Aziza Zeighami, Roni Zemet, Andrew C. Edmondson, Éva Morava · 发表于：Molecular Genetics and Metabolism · 年份：2024 · DOI：10.1016/j.ymgme.2024.108509 · 被引用次数：20 · 研究领域：Glycosylation and Glycoproteins Research、Infant Nutrition and Health、Lysosomal Storage Disorders Research