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Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community 绘制先天性糖基化障碍 (CDG) 的诊断奥德赛: 来自社区的见解 Granjo, Pedro; Pascoal, Carlota; Gallego, Diana; Francisco, Rita; Jaeken, Jaak; Moors, Tristen; Edmondson, Andrew C.; Kantautas, Kristin A.; Serrano, Mercedes; Videira, Paula A.; dos Reis Ferreira, Vanessa 分享 收藏
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Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis PMM2-CDG成人步态障碍的仪器评估: 可行性分析 Cirnigliaro, Lara; Pettinato, Fabio; Valle, Maria Stella; Casabona, Antonino; Fiumara, Agata; Vecchio, Michele; Amico, Valerio; Rizzo, Renata; Jaeken, Jaak; Barone, Rita; Cioni, Matteo 分享 收藏
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Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals Pascoal, C.; Ferreira, I; Teixeira, C.; Almeida, E.; Slade, A.; Brasil, S.; Francisco, R.; Ligezka, A. N.; Morava, E.; Plotkin, H.; Jaeken, J.; Videira, P. A.; Barros, L.; Ferreira, V. dos Reis 分享 收藏
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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 分享 收藏
Defective IGF-1 prohormone N-glycosylation and reduced IGF-1 receptor signaling activation in congenital disorders of glycosylation Di Patria, Laura; Annibalini, Giosue; Morrone, Amelia; Ferri, Lorenzo; Saltarelli, Roberta; Galluzzi, Luca; Diotallevi, Aurora; Bocconcelli, Matteo; Donati, Maria Alice; Barone, Rita; Guerrini, Renzo; Jaeken, Jaak; Stocchi, Vilberto; Barbieri, Elena 分享 收藏
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Assessing the effects of PMM2 variants on protein stability Quelhas, D.; Carneiro, J.; Lopes-Marques, M.; Jaeken, J.; Martins, E.; Rocha, J. F.; Carla, S. S. Teixeira; Ferreira, C. R.; Sousa, S. F.; Azevedo, L. 分享 收藏
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. 分享 收藏
Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience Quelhas, Dulce; Martins, Esmeralda; Azevedo, Luisa; Bandeira, Anabela; Diogo, Luisa; Garcia, Paula; Sequeira, Silvia; Ferreira, Ana Cristina; Teles, Elisa Leao; Rodrigues, Esmeralda; Fortuna, Ana Maria; Mendonca, Carla; Fernandes, Helena Cabral; Medeira, Ana; Gaspar, Ana; Janeiro, Patricia; Oliveira, Anabela; Laranjeira, Francisco; Ribeiro, Isaura; Souche, Erica; Race, Valerie; Keldermans, Liesbeth; Matthijs, Gert; Jaeken, Jaak 分享 收藏
De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females Li, Dong; Strong, Alanna; Shen, Kaitlyn M.; Cassiman, David; Van Dyck, Maria; Linhares, Natalia Duarte; Valadares, Eugenia Ribeiro; Wang, Tiancheng; Pena, Sergio D. J.; Jaeken, Jaak; Vergano, Samantha; Zackai, Elaine; Hing, Anne; Chow, Penny; Ganguly, Arupa; Scholz, Tasja; Bierhals, Tatjana; Philipp, Deindl; Hakonarson, Hakon; Bhoj, Elizabeth 分享 收藏
D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial PMM2-CDG患者补充D-半乳糖: 多中心，开放标签，前瞻性试点临床试验的结果 Witters, Peter; Andersson, Hans; Jaeken, Jaak; Tseng, Laura; van Karnebeek, Clara D. M.; Lefeber, Dirk J.; Cassiman, David; Morava, Eva 分享 收藏
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder Schneeberger, Pauline E.; Kortum, Fanny; Korenke, Georg Christoph; Alawi, Malik; Santer, Rene; Woidy, Mathias; Buhas, Daniela; Fox, Stephanie; Juusola, Jane; Alfadhel, Majid; Webb, Bryn D.; Coci, Emanuele G.; Abou Jamra, Rami; Siekmeyer, Manuela; Biskup, Saskia; Heller, Corina; Maier, Esther M.; Javaher-Haghighi, Poupak; Bedeschi, Maria F.; Ajmone, Paola F.; Iascone, Maria; Peeters, Hilde; Ballon, Katleen; Jaeken, Jaak; Rodriguez Alonso, Aroa; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Meuwissen, Marije E. C.; Beysen, Diane; Kooy, R. Frank; Houlden, Henry; Murphy, David; Doosti, Mohammad; Karimiani, Ehsan; Mojarrad, Majid; Maroofian, Reza; Noskova, Lenka; Kmoch, Stanislav; Honzik, Tomas; Cope, Heidi; Sanchez-Valle, Amarilis; Gelb, Bruce D.; Kurth, Ingo; Hempel, Maja; Kutsche, Kerstin 分享 收藏
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