Search Results - Lefeber, Dirk

Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings by Wilson, Matthew P. (Author) , Garanto, Alejandro (Author) , Pinto e Vairo, Filippo (Author) , Ng, Bobby G. (Author) , Ranatunga, Wasantha K. (Author) , Ventouratou, Marina (Author) , Baerenfaenger, Melissa (Author) , Huijben, Karin (Author) , Thiel, Christian (Author) , Ashikov, Angel (Author) , Keldermans, Liesbeth (Author) , Souche, Erika (Author) , Vuillaumier-Barrot, Sandrine (Author) , Dupré, Thierry (Author) , Michelakakis, Helen (Author) , Fiumara, Agata (Author) , Pitt, James (Author) , White, Susan M. (Author) , Lim, Sze Chern (Author) , Gallacher, Lyndon (Author) , Peters, Heidi (Author) , Rymen, Daisy (Author) , Witters, Peter (Author) , Ribes, Antonia (Author) , Morales-Romero, Blai (Author) , Rodríguez-Palmero, Agustí (Author) , Ballhausen, Diana (Author) , de Lonlay, Pascale (Author) , Barone, Rita (Author) , Janssen, Mirian C. H. (Author) , Jaeken, Jaak (Author) , Freeze, Hudson H. (Author) , Matthijs, Gert (Author) , Morava, Eva (Author) , Lefeber, Dirk J. (Author) ,

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International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): diagnosis, follow-up, and management by Altassan, Ruqaiah (Author) , Radenkovic, Silvia (Author) , Edmondson, Andrew C. (Author) , Barone, Rita (Author) , Brasil, Sandra (Author) , Cechova, Anna (Author) , Coman, David (Author) , Donoghue, Sarah (Author) , Falkenstein, Kristina (Author) , Ferreira, Vanessa (Author) , Ferreira, Carlos (Author) , Fiumara, Agata (Author) , Francisco, Rita (Author) , Freeze, Hudson (Author) , Grunewald, Stephanie (Author) , Honzik, Tomas (Author) , Jaeken, Jaak (Author) , Krasnewich, Donna (Author) , Lam, Christina (Author) , Lee, Joy (Author) , Lefeber, Dirk (Author) , Marques-da-Silva, Dorinda (Author) , Pascoal, Carlota (Author) , Quelhas, Dulce (Author) , Raymond, Kimiyo M. (Author) , Rymen, Daisy (Author) , Seroczynska, Malgorzata (Author) , Serrano, Mercedes (Author) , Sykut-Cegielska, Jolanta (Author) , Thiel, Christian (Author) , Tort, Frederic (Author) , Vals, Mari-Anne (Author) , Videira, Paula (Author) , Voermans, Nicol (Author) , Witters, Peter (Author) , Morava, Eva (Author) ,

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Mutations in the V-ATPase assembly factor VMA21 cause a congenital disorder of glycosylation with autophagic liver disease by Cannata Serio, Magda (Author) , Graham, Laurie A. (Author) , Ashikov, Angel (Author) , Larsen, Lars Elmann (Author) , Raymond, Kimiyo (Author) , Timal, Sharita (Author) , Meur, Gwenn Le (Author) , Ryan, Margret (Author) , Czarnowska, Elzbieta (Author) , Jansen, Jos C. (Author) , He, Miao (Author) , Ficicioglu, Can (Author) , Pichurin, Pavel (Author) , Hasadsri, Linda (Author) , Minassian, Berge (Author) , Rugierri, Alessandra (Author) , Kalimo, Hannu (Author) , Ríos‐Ocampo, W. Alfredo (Author) , Gilissen, Christian (Author) , Rodenburg, Richard (Author) , Jonker, Johan W. (Author) , Holleboom, Adriaan G. (Author) , Morava, Eva (Author) , Veltman, Joris A. (Author) , Socha, Piotr (Author) , Stevens, Tom H. (Author) , Simons, Matias (Author) , Lefeber, Dirk J. (Author) ,

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Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies by Morava-Kozicz, Eva (Author) , Tiemes, Vera (Author) , Thiel, Christian (Author) , Seta, Nathalie (Author) , Lonlay, Pascale de (Author) , Klerk, Hans de (Author) , Mulder, Margot (Author) , Rubio‐Gozalbo, Estela (Author) , Visser, Gepke (Author) , Hasselt, Peter van (Author) , Horovitz, Dafne D. G. (Author) , Souza, Carolina Fischinger Moura de (Author) , Schwartz, Ida V. D. (Author) , Green, Andrew (Author) , Al‐Owain, Mohammed (Author) , Uziel, Graciella (Author) , Sigaudy, Sabine (Author) , Chabrol, Brigitte (Author) , Spronsen, Franc-Jan van (Author) , Steinert, Martin (Author) , Komini, Eleni (Author) , Wurm, Donald (Author) , Bevot, Andrea (Author) , Ayadi, Addelkarim (Author) , Huijben, Karin (Author) , Dercksen, Marli (Author) , Witters, Peter (Author) , Jaeken, Jaak (Author) , Matthijs, Gert (Author) , Lefeber, Dirk J. (Author) , Wevers, Ron A. (Author) ,

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ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies by Morava-Kozicz, Eva (Author) , Tiemes, Vera (Author) , Thiel, Christian (Author) , Seta, Nathalie (Author) , Lonlay, Pascale de (Author) , Klerk, Hans de (Author) , Mulder, Margot (Author) , Rubio‐Gozalbo, Estela (Author) , Visser, Gepke (Author) , Hasselt, Peter van (Author) , Horovitz, Dafne D. G. (Author) , Souza, Carolina Fischinger Moura de (Author) , Schwartz, Ida V. D. (Author) , Green, Andrew (Author) , Al‐Owain, Mohammed (Author) , Uziel, Graciella (Author) , Sigaudy, Sabine (Author) , Chabrol, Brigitte (Author) , Spronsen, Franc-Jan van (Author) , Steinert, Martin (Author) , Komini, Eleni (Author) , Wurm, Donald (Author) , Bevot, Andrea (Author) , Ayadi, Addelkarim (Author) , Huijben, Karin (Author) , Dercksen, Marli (Author) , Witters, Peter (Author) , Jaeken, Jaak (Author) , Matthijs, Gert (Author) , Lefeber, Dirk J. (Author) , Wevers, Ron A. (Author) ,

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MACS syndrome: a combined collagen and elastin disorder due to abnormal Golgi trafficking by Albrecht, Beate Hilde (Author) , de Brouwer, Arjan P. (Author) , Lefeber, Dirk J. (Author) , Cremer, Kirsten (Author) , Haußer-Siller, Ingrid (Author) , Rossen, Nick (Author) , Wortmann, Saskia B. (Author) , Wevers, Ron A. (Author) , Kornak, Uwe (Author) , Morava, Eva (Author) ,

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A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism by Morava-Kozicz, Eva (Author) , Wevers, Ron A. (Author) , Cantagrel, Vincent (Author) , Hoefsloot, Lies H. (Author) , Al-Gazali, Lihadh (Author) , Schoots, Jeroen (Author) , Rooij, Arno van (Author) , Huijben, Karin (Author) , Ravenswaaij-Arts, Connie M. A. van (Author) , Jongmans, Marjolein C. J. (Author) , Sykut-Cegielska, Jolanta (Author) , Hoffmann, Georg F. (Author) , Bluemel, Peter (Author) , Adamowicz, Maciej (Author) , Reeuwijk, Jeroen van (Author) , Ng, Bobby G. (Author) , Bergman, Jorieke E. H. (Author) , van Bokhoven, Hans (Author) , Körner, Christian (Author) , Babovic-Vuksanovic, Dusica (Author) , Willemsen, Michel A. (Author) , Gleeson, Joseph G. (Author) , Lehle, Ludwig (Author) , Brouwer, Arjan P. M. de (Author) , Lefeber, Dirk J. (Author) ,

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