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

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

2024Molecular Genetics and Metabolism19 citationsDOIOpen Access PDF

Topics & Concepts

Natural historyNatural history studyCohortMedicinePediatricsFamily historyCohort studyProspective cohort studyRetrospective cohort studyHypotoniaCross-sectional studyInternal medicinePathologyGlycosylation and Glycoproteins ResearchInfant Nutrition and HealthLysosomal Storage Disorders Research