Not logged in Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort 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; Af, Jenny Thies; Vockley, Jerry; Vreugdenhil, Hayden; Witters, Peter; Youbi, Mehdi; Zeighami, Aziza; Zemet, Roni; Edmondson, Andrew C.; Morava, Eva Share Save
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ARTICLE Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions Muthusamy, Karthik; Perez-Ortiz, Judit M.; Ligezka, Anna N.; Altassan, Ruqaiah; Johnsen, Christin; Schultz, Matthew J.; Patterson, Marc C.; Morava, Eva Share Save
Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation De Graef, Diederik; Ligezka, Anna N.; Rezents, Joseph; Mazza, Gina L.; Preston, Graeme; Schwartz, Kaitlin; Krzysciak, Wirginia; Lam, Christina; Edmondson, Andrew C.; Johnsen, Christin; Kozicz, Tamas; Morava, Eva Share Save
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Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications Ligezka, Anna N.; Radenkovic, Silvia; Saraswat, Mayank; Garapati, Kishore; Ranatunga, Wasantha; Krzysciak, Wirginia; Yanaihara, Hitoshi; Preston, Graeme; Brucker, William; McGovern, Renee M.; Reid, Joel M.; Cassiman, David; Muthusamy, Karthik; Johnsen, Christin; Mercimek-Andrews, Saadet; Larson, Austin; Lam, Christina; Edmondson, Andrew C.; Ghesquiere, Bart; Witters, Peter; Raymond, Kimiyo; Oglesbee, Devin; Pandey, Akhilesh; Perlstein, Ethan O.; Kozicz, Tamas; Morava, Eva Share Save
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Low dose linomide in Type I juvenile diabetes of recent onset:: a randomised placebo-controlled double blind trial Coutant, R; Landais, P; Rosilio, M; Johnsen, C; Lahlou, N; Chatelain, P; Carel, JC; Ludvigsson, J; Boitard, C; Bougnères, PF Share Save