未登录 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
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
Defining the Phenotype in Congenital Disorder of Glycosylation Due to ALG1 Mutations Morava, Eva; Vodopiutz, Julia; Lefeber, Dirk J.; Janecke, Andreas R.; Schmidt, Wolfgang M.; Lechner, Silvia; Item, Chike B.; Sykut-Cegielska, Jolanta; Adamowicz, Maciej; Wierzba, Jolanta; Zhang, Zong H.; Mihalek, Ivana; Stockler, Sylvia; Bodamer, Olaf A.; Lehle, Ludwig; Wevers, Ron A. 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
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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
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Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients 两名cdg-ia患者中两种不寻常的截断PMM2突变的表征 Schollen, Els; Keldermans, Liesbeth; Foulquier, Francois; Briones, Paz; Chabas, Arnparo; Sanchez-Valverde, Felix; Adamowicz, Maciej; Pronicka, Ewa; Wevers, Ron; Matthijs, Grert 分享 收藏
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Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis Hellerud, C; Adamowicz, M; Jurkiewicz, D; Taybert, J; Kubalska, J; Ciara, E; Popowska, E; Ellis, JR; Lindstedt, S; Pronicka, E 分享 收藏
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