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Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG Pajusalu, Sander; Vals, Mari-Anne; Serrano, Mercedes; Witters, Peter; Cechova, Anna; Honzik, Tomas; Edmondson, Andrew C.; Ficicioglu, Can; Barone, Rita; De Lonlay, Pascale; Berat, Claire-Marine; Vuillaumier-Barrot, Sandrine; Lam, Christina; Patterson, Marc C.; Janssen, Mirian C. H.; Martins, Esmeralda; Quelhas, Dulce; Sykut-Cegielska, Jolanta; Mousa, Jehan; Urreizti, Roser; Mcwilliams, Peter; Vernhes, Frederique; Plotkin, Horacio; Morava, Eva; Ounap, Katrin Share Save
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
Single-cell RNA sequencing of cystic fibrosis liver disease explants reveals endothelial complement activation Declercq, Mathias; Treps, Lucas; Geldhof, Vincent; Conchinha, Nadine V.; de Rooij, Laura P. M. H.; Subramanian, Abhishek; Feyeux, Magalie; Cotinat, Marine; Boeckx, Bram; Vinckier, Stefan; Dupont, Lieven; Vermeulen, Francois; Boon, Mieke; Proesmans, Marijke; Libbrecht, Louis; Pirenne, Jacques; Monbaliu, Diethard; Jochmans, Ina; Dewerchin, Mieke; Eelen, Guy; Roskams, Tania; Verleden, Stijn; Lambrechts, Diether; Carmeliet, Peter; Witters, Peter Share Save
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Baby-COMET: Safety of avalglucosidase alfa after repeat dosing in treatment-naive participants with infantile-onset Pompe disease (IOPD) Hahn, Andreas; Fu, Lijun; Gasperini, Serena; Witters, Peter; Accomando, Beverly; Haack, Kristina An; Huynh-Ba, Olivier; Sparks, Susan; Tammireddy, Swathi; Chien, Yin-Hsiu Share Save
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Tracer metabolomics reveals the role of aldose reductase in glycosylation Radenkovic, Silvia; Ligezka, Anna N.; Mokashi, Sneha S.; Driesen, Karen; Dukes-Rimsky, Lynn; Preston, Graeme; Owuocha, Luckio F.; Sabbagh, Leila; Mousa, Jehan; Lam, Christina; Edmondson, Andrew; Larson, Austin; Schultz, Matthew; Vermeersch, Pieter; Cassiman, David; Witters, Peter; Beamer, Lesa J.; Kozicz, Tamas; Flanagan-Steet, Heather; Ghesquiere, Bart; Morava, Eva Share Save
Long-term catch-up growth in children with acid sphingomyelinase deficiency treated with olipudase adlfa enzyme replacement therapy in the ASCEND-Peds trial Giugliani, Roberto; Diaz, George; Guffon, Nathalie; Jones, Simon A.; McGovern, Margaret; Mengel, Eugen; Scarpa, Maurizio; Witters, Peter; Yarramaneni, Abhimanyu; Armstrong, Nicole; Ortemann-Renon, Catherine; Kim, Yong; Kumar, Monica Share Save
Pyruvate and uridine rescue the metabolic profile of OXPHOS dysfunction Adant, Isabelle; Bird, Matthew; Decru, Bram; Windmolders, Petra; Wallays, Marie; de Witte, Peter; Rymen, Daisy; Witters, Peter; Vermeersch, Pieter; Cassiman, David; Ghesquiere, Bart Share Save
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TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability Radenkovic, Silvia; Martinelli, Diego; Zhang, Yuebo; Preston, Graeme J.; Maiorana, Arianna; Terracciano, Alessandra; Dentici, Maria Lisa; Pisaneschi, Elisa; Novelli, Antonio; Ranatunga, Wasantha; Ligezka, Anna N.; Ghesquiere, Bart; Deyle, David R.; Kozicz, Tamas; Pinto e Vairo, Filippo; Witters, Peter; Morava, Eva Share Save
Continued improvement in pulmonary, visceral, biomarker and growth outcomes in children with chronic acid sphingomyelinase deficiency treated with olipudase alfa enzyme replacement therapy: 2-year results of ASCEND-Peds Diaz, George A.; Giugliani, Roberto; Guffon, Nathalie; Mengel, Eugen; Scarpa, Maurizio; Witters, Peter; Yarramaneni, Abhimanyu; Li, Jing; Rawlings, Andreea M.; Kim, Yong; Ortemann-Renon, Catherine; Kumar, Monica Share Save
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings Wilson, Matthew P.; Garanto, Alejandro; Vairo, Filippo Pinto E.; Ng, Bobby G.; Ranatunga, Wasantha K.; Ventouratou, Marina; Baerenfaenger, Melissa; Huijben, Karin; Thiel, Christian; Ashikov, Angel; Keldermans, Liesbeth; Souche, Erika; Vuillaumier-Barrot, Sandrine; Dupre, Thierry; Michelakakis, Helen; Fiumara, Agata; Pitt, James; White, Susan M.; Lim, Sze Chern; Gallacher, Lyndon; Peters, Heidi; Rymen, Daisy; Witters, Peter; Ribes, Antonia; Morales-Romero, Blai; Rodriguez-Palmero, Agusti; Ballhausen, Diana; de Lonlay, Pascale; Barone, Rita; Janssen, Mirian C. H.; Jaeken, Jaak; Freeze, Hudson H.; Matthijs, Gert; Morava, Eva; Lefeber, Dirk J. Share Save
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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