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Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome Delafontaine, Selket; Iannuzzo, Alberto; Bigley, Tarin M.; Mylemans, Bram; Rana, Ruchit; Baatsen, Pieter; Poli, Maria Cecilia; Rymen, Daisy; Jansen, Katrien; Mekahli, Djalila; Casteels, Ingele; Cassiman, Catherine; Demaerel, Philippe; Lepelley, Alice; Fremond, Marie -Louise; Schrijvers, Rik; Bossuyt, Xavier; Vints, Katlijn; Huybrechts, Wim; Tacine, Rachida; Willekens, Karen; Corveleyn, Anniek; Boeckx, Bram; Baggio, Marco; Ehlers, Lisa; Munck, Sebastian; Lambrechts, Diether; Voet, Arnout; Moens, Leen; Bucciol, Giorgia; Cooper, Megan A.; Davis, Carla M.; Delon, Jerome; Meyts, Isabelle Share Save
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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
CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking Wilson, Matthew P.; Durin, Zoe; Unal, Ozlem; Ng, Bobby G.; Marrecau, Thomas; Keldermans, Liesbeth; Souche, Erika; Rymen, Daisy; Gunduz, Mehmet; Kose, Guluen; Sturiale, Luisa; Garozzo, Domenico; Freeze, Hudson H.; Jaeken, Jaak; Foulquier, Francois; Matthijs, Gert 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
Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation Rymen, Daisy; Lindhout, Martijn; Spanou, Maria; Ashrafzadeh, Farah; Benkel, Ira; Betzler, Cornelia; Coubes, Christine; Hartmann, Hans; Kaplan, Julie D.; Ballhausen, Diana; Koch, Johannes; Lotte, Jan; Mohammadi, Mohammad Hasan; Rohrbach, Marianne; Dinopoulos, Argirios; Wermuth, Marieke; Willis, Daniel; Brugger, Karin; Wevers, Ron A.; Boltshauser, Eugen; Bierau, Jorgen; Mayr, Johannes A.; Wortmann, Saskia B. Share Save
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RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities Cousin, Margot A.; Conboy, Erin; Wang, Jian-She; Lenz, Dominic; Schwab, Tanya L.; Williams, Monique; Abraham, Roshini S.; Barnett, Sarah; El-Youssef, Mounif; Graham, Rondell P.; Sanchez, Luz Helena Gutierrez; Hasadsri, Linda; Hoffmann, Georg F.; Hull, Nathan C.; Kopajtich, Robert; Kovacs-Nagy, Reka; Li, Jia-qi; Marx-Berger, Daniela; Mclin, Valerie; McNiven, Mark A.; Mounajjed, Taofic; Prokisch, Holger; Rymen, Daisy; Schulze, Ryan J.; Staufner, Christian; Yang, Ye; Clark, Karl J.; Lanpher, Brendan C.; Klee, Eric W. Share Save
Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype Blommaert, Eline; Peanne, Romain; Cherepanova, Natalia A.; Rymen, Daisy; Staels, Frederik; Jaeken, Jaak; Race, Valerie; Keldermans, Liesbeth; Souche, Erika; Corveleyn, Anniek; Sparkes, Rebecca; Bhattacharya, Kaustuv; Devalck, Christine; Schrijvers, Rik; Foulquier, Francois; Gilmore, Reid; Matthijs, Gert Share Save
Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects Rujano, Maria A.; Serio, Magda Cannata; Panasyuk, Ganna; P, Romain Anne; Reunert, Janine; Rymen, Daisy; Hauser, Virginie; Park, Julien H.; Freisinger, Peter; Souche, Erika; Guida, Maria Clara; Maier, Esther M.; Wada, Yoshinao; Jager, Stefanie; Krogan, Nevan J.; Kretz, Oliver; Nobre, Susana; Garcia, Paula; Quelhas, Dulce; Bird, Thomas D.; Raskind, Wendy H.; Schwake, Michael; Duvet, Sandrine; Foulquier, Francois; Matthijs, Gert; Marquardt, Thorsten; Simons, Matias Share Save
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency Wong, Sunnie Yan-Wai; Beamer, Lesa J.; Gadomski, Therese; Honzik, Tomas; Mohamed, Miski; Wortmann, Saskia B.; Holmefjord, Katja S. Brocke; Mork, Marit; Bowling, Francis; Sykut-Cegielska, Jolanta; Koch, Dieter; Ackermann, Amanda; Stanley, Charles A.; Rymen, Daisy; Zeharia, Avraham; Al-Sayed, Moeen; Marquardt, Thomas; Jaeken, Jaak; Lefeber, Dirk; Conrad, Donald F.; Kozicz, Tamas; Morava, Eva Share Save
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients Ng, Bobby G.; Shiryaev, Sergey A.; Rymen, Daisy; Eklund, Erik A.; Raymond, Kimiyo; Kircher, Martin; Abdenur, Jose E.; Alehan, Fusun; Midro, Alina T.; Bamshad, Michael J.; Barone, Rita; Berry, Gerard T.; Brumbaugh, Jane E.; Buckingham, Kati J.; Clarkson, Katie; Cole, F. Sessions; O'Connor, Shawn; Cooper, Gregory M.; Van Coster, Rudy; Demmer, Laurie A.; Diogo, Luisa; Fay, Alexander J.; Ficicioglu, Can; Fiumara, Agata; Gahl, William A.; Ganetzky, Rebecca; Goel, Himanshu; Harshman, Lyndsay A.; He, Miao; Jaeken, Jaak; James, Philip M.; Katz, Daniel; Keldermans, Liesbeth; Kibaek, Maria; Kornberg, Andrew J.; Lachlan, Katherine; Lam, Christina; Yaplito-Lee, Joy; Nickerson, Deborah A.; Peters, Heidi L.; Race, Valerie; Regal, Luc; Rush, Jeffrey S.; Rutledge, S. Lane; Shendure, Jay; Souche, Erika; Sparks, Susan E.; Trapane, Pamela; Sanchez-Valle, Amarilis; Vilain, Eric; Vollo, Arve; Waechter, Charles J.; Wang, Raymond Y.; Wolfe, Lynne A.; Wong, Derek A.; Wood, Tim; Yang, Amy C.; Washington, Univ; Matthijs, Gert; Freeze, Hudson H. Share Save
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation Jansen, Jos C.; Cirak, Sebahattin; van Scherpenzeel, Monique; Timal, Sharita; Reunert, Janine; Rust, Stephan; Perez, Belen; Vicogne, Dorothee; Krawitz, Peter; Wada, Yoshinao; Ashikov, Angel; Perez-Cerda, Celia; Medrano, Celia; Arnoldy, Andrea; Hoischen, Alexander; Huijben, Karin; Steenbergen, Gerry; Quelhas, Dulce; Diogo, Luisa; Rymen, Daisy; Jaeken, Jaak; Guffon, Nathalie; Cheillan, David; van den Heuvel, Lambertus P.; Maeda, Yusuke; Kaiser, Olaf; Schara, Ulrike; Gerner, Patrick; van den Boogert, Marjolein A. W.; Holleboom, Adriaan G.; Nassogne, Marie-Cecile; Sokal, Etienne; Salomon, Jody; van den Bogaart, Geert; Drenth, Joost P. H.; Huynen, Martijn A.; Veltman, Joris A.; Wevers, Ron A.; Morava, Eva; Matthijs, Gert; Foulquier, Francois; Marquardt, Thorsten; Lefeber, Dirk J. Share Save
Key features and clinical variability of COG6-CDG Rymen, Daisy; Winter, Julia; Van Hasselt, Peter M.; Jaeken, Jaak; Kasapkara, Cigdem; Gokcay, Gulden; Haijes, Hanneke; Goyens, Philippe; Tokatli, Aysegul; Thiel, Christian; Bartsch, Oliver; Hecht, Jochen; Krawitz, Peter; Prinsen, Hubertus C. M. T.; Mildenberger, Eva; Matthijs, Gert; Kornak, Uwe Share Save
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency Van Scherpenzeel, Monique; Timal, Sharita; Rymen, Daisy; Hoischen, Alexander; Wuhrer, Manfred; Hipgrave-Ederveen, Agnes; Grunewald, Stephanie; Peanne, Romain; Saada, Ann; Edvardson, Shimon; Gronborg, Sabine; Ruijter, George; Kattentidt-Mouravieva, Anna; Brum, Jaime Moritz; Freckmann, Mary-Louise; Tomkins, Susan; Jalan, Anil; Prochazkova, Dagmar; Ondruskova, Nina; Hansikova, Hana; Willemsen, Michel A.; Hensbergen, Paul J.; Matthijs, Gert; Wevers, Ron A.; Veltman, Joris A.; Morava, Eva; Lefeber, Dirk J. Share Save
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