未登录 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 disorder of glycosylation caused by starting site-specific variant in syntaxin-5 Linders, Peter T. A.; Gerretsen, Eveline C. F.; Ashikov, Angel; Vals, Mari-Anne; de Boer, Rinse; Revelo, Natalia H.; Arts, Richard; Baerenfaenger, Melissa; Zijlstra, Fokje; Huijben, Karin; Raymond, Kimiyo; Muru, Kai; Fjodorova, Olga; Pajusalu, Sander; Ounap, Katrin; Ter Beest, Martin; Lefeber, Dirk; van den Bogaart, Geert 分享 收藏
Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function Wen, Xiao-Yan; Tarailo-Graovac, Maja; Brand-Arzamendi, Koroboshka; Willems, Anke; Rakic, Bojana; Huijben, Karin; Da Silva, Afitz; Pan, Xuefang; El-Rass, Suzan; Ng, Robin; Selby, Katheryn; Philip, Anju Mary; Yun, Junghwa; Ye, X. Cynthia; Ross, Colin J.; Lehman, Anna M.; Zijistra, Fokje; Abu Bakar, A.; Drogemoller, Britt; Moreland, Jacqueline; Wasserman, Wyeth W.; Valiance, Hilary; van Scherpenzeel, Monique; Karbassi, Farhad; Hoskings, Martin; Engelke, Udo; de de Brouwer, Arjan; Wevers, Ron A.; Pshezhetsky, Alexey, V; van Karnebeek, Clara D. M.; Lefeber, Dirk J. 分享 收藏
Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation Ashikov, Angel; Abu Bakar, Nurulamin; Wen, Xiao-Yan; Niemeijer, Marco; Osorio, Glentino Rodrigues Pinto; Brand-Arzamendi, Koroboshka; Hasadsri, Linda; Hansikova, Hana; Raymond, Kimiyo; Vicogne, Dorothee; Ondruskova, Nina; Simon, Marleen E. H.; Pfundt, Rolph; Timal, Sharita; Beumers, Roel; Biot, Christophe; Smeets, Roel; Kersten, Marjan; Huijben, Karin; Linders, Peter T. A.; van den Bogaart, Geert; van Hijum, Sacha A. F. T.; Rodenburg, Richard; van den Heuvel, Lambertus P.; van Spronsen, Francjan; Honzik, Tomas; Foulquier, Francois; van Scherpenzeel, Monique; Lefeber, Dirk J. 分享 收藏
NANS-mediated synthesis of sialic acid is required for brain and skeletal development (vol 48, pg 777, 2016) van Karnebeek, Clara D. M.; Bonafe, Luisa; Wen, Xiao-Yan; Tarailo-Graovac, Maja; Balzano, Sara; Royer-Bertrand, Beryl; Ashikov, Angel; Garavelli, Livia; Mammi, Isabella; Turolla, Licia; Breen, Catherine; Donnai, Dian; Cormier-Daire, Valerie; Heron, Delphine; Nishimura, Gen; Uchikawa, Shinichi; Campos-Xavier, Belinda; Rossi, Antonio; Hennet, Thierry; Brand-Arzamendi, Koroboshka; Rozmus, Jacob; Harshman, Keith; Stevenson, Brian J.; Girardi, Enrico; Superti-Furga, Giulio; Dewan, Tammie; Collingridge, Alissa; Halparin, Jessie; Ross, Colin J.; Van Allen, Margot I.; Rossi, Andrea; Engelke, Udo F.; Kluijtmans, Leo A. J.; van der Heeft, Ed; Renkema, Herma; de Brouwer, Arjan; Huijben, Karin; Zijlstra, Fokje; Heise, Torben; Boltje, Thomas; Wasserman, Wyeth W.; Rivolta, Carlo; Unger, Sheila; Lefeber, Dirk J.; Wevers, Ron A.; Superti-Furga, Andrea 分享 收藏
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation Jansen, Eric J. R.; Timal, Sharita; Ryan, Margret; Ashikov, Angel; van Scherpenzeel, Monique; Graham, Laurie A.; Mandel, Hanna; Hoischen, Alexander; Iancu, Theodore C.; Raymond, Kimiyo; Steenbergen, Gerry; Gilissen, Christian; Huijben, Karin; van Bakel, Nick H. M.; Maeda, Yusuke; Rodenburg, Richard J.; Adamowicz, Maciej; Crushell, Ellen; Koenen, Hans; Adams, Darius; Vodopiutz, Julia; Greber-Platzer, Susanne; Mueller, Thomas; Dueckers, Gregor; Morava, Eva; Sykut-Cegielska, Jolanta; Martens, Gerard J. M.; Wevers, Ron A.; Niehues, Tim; Huynen, Martijn A.; Veltman, Joris A.; Stevens, Tom H.; Lefeber, Dirk J. 分享 收藏
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation Jansen, Jos C.; Timal, Sharita; van Scherpenzeel, Monique; Michelakakis, Helen; Vicogne, Dorothee; Ashikov, Angel; Moraitou, Marina; Hoischen, Alexander; Huijben, Karin; Steenbergen, Gerry; van den Boogert, Marjolein A. W.; Porta, Francesco; Calvo, Pier Luigi; Mavrikou, Mersyni; Cenacchi, Giovanna; van den Bogaart, Geert; Salomon, Jody; Holleboom, Adriaan G.; Rodenburg, Richard J.; Drenth, Joost P. H.; Huynen, Martijn A.; Wevers, Ron A.; Morava, Eva; Foulquier, Francois; Veltman, Joris A.; Lefeber, Dirk J. 分享 收藏
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. 分享 收藏
Multiple Phenotypes in Phosphoglucomutase 1 Deficiency 磷酸葡萄糖变现酶1缺乏症的多种表型 Tegtmeyer, L. C.; Rust, S.; van Scherpenzeel, M.; Ng, B. G.; Losfeld, M. -E.; Timal, S.; Raymond, K.; He, P.; Ichikawa, M.; Veltman, J.; Huijben, K.; Shin, Y. S.; Sharma, V.; Adamowicz, M.; Lammens, M.; Reunert, J.; Witten, A.; Schrapers, E.; Matthijs, G.; Jaeken, J.; Rymen, D.; Stojkovic, T.; Laforet, P.; Petit, F.; Aumaitre, O.; Czarnowska, E.; Piraud, M.; Podskarbi, T.; Stanley, C. A.; Matalon, R.; Burda, P.; Seyyedi, S.; Debus, V.; Socha, P.; Sykut-Cegielska, J.; van Spronsen, F.; de Meirleir, L.; Vajro, P.; DeClue, T.; Ficicioglu, C.; Wada, Y.; Wevers, R. A.; Vanderschaeghe, D.; Callewaert, N.; Fingerhut, R.; van Schaftingen, E.; Freeze, H. H.; Morava, E.; Lefeber, D. J.; Marquardt, T. 分享 收藏
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing Timal, Sharita; Hoischen, Alexander; Lehle, Ludwig; Adamowicz, Maciej; Huijben, Karin; Sykut-Cegielska, Jolanta; Paprocka, Justyna; Jamroz, Ewa; van Spronsen, Francjan J.; Koerner, Christian; Gilissen, Christian; Rodenburg, Richard J.; Eidhof, Ilse; Van den Heuvel, Lambert; Thiel, Christian; Wevers, Ron A.; Morava, Eva; Veltman, Joris; Lefeber, Dirk J. 分享 收藏
Thyroid function in PMM2-CDG: Diagnostic approach and proposed management PMM2-CDG的甲状腺功能: 诊断方法和建议的管理 Mohamed, Miski; Theodore, Miranda; Claahsen-van der Grinten, Hedi; van Herwaarden, Antonius E.; Huijben, Karin; van Dongen, Lotte; Kouwenberg, Dorus; Lefeber, Dirk J.; Wevers, Ron A.; Morava, Eva 分享 收藏
分享 收藏
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism Morava, Eva; Wevers, Ron A.; Cantagrel, Vincent; Hoefsloot, Lies H.; Al-Gazali, Lihadh; Schoots, Jeroen; van Rooij, Arno; Huijben, Karin; van Ravenswaaij-Arts, Connie M. A.; Jongmans, Marjolein C. J.; Sykut-Cegielska, Jolanta; Hoffmann, Georg F.; Bluemel, Peter; Adamowicz, Maciej; van Reeuwijk, Jeroen; Ng, Bobby G.; Bergman, Jorieke E. H.; van Bokhoven, Hans; Koerner, Christian; Babovic-Vuksanovic, Dusica; Willemsen, Michel A.; Gleeson, Joseph G.; Lehle, Ludwig; de Brouwer, Arjan P. M.; Lefeber, Dirk J. 分享 收藏
A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia (vol 15, pg 638-645, 2007) Morava, Eva; Zeevaert, Renate; Korsch, Eckhard; Huijben, Karin; Wopereis, Suzan; Matthijs, Gert; Keymolen, Kathelijn; Lefeber, Dirk J.; De Meirleir, Linda; Wevers, Ron A. 分享 收藏
A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia Morava, Eva; Zeevaert, Renate; Korsch, Eckhard; Huijben, Karin; Wopereis, Suzan; Matthijs, Gert; Keymolen, Kathelijn; Lefeber, Dirk J.; De Meirleir, Linda; Wevers, Ron A. 分享 收藏
分享 收藏
.png){kind=icon}
未登录.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
