Show 10 5 10 15 20 50 100 250 Sort by year (new to old) Actions Download search results Subscribe to news feed Your filters: cql: author="Jaeken, Jaak" or (type exact bookEditor and editor="Jaeken, Jaak") Add to list Journal Article A1 Oral D-galactose supplementation in PGM1-CDG Sunnie Yan-Wai Wong, Therese Gadomski, Monique van Scherpenzeel, Tomas Honzik, Hana Hansikova, Katja S Brocke Holmefjord, Marit Mork, Francis Bowling, Jolanta Sykut-Cegielska, Dieter Koch, et al. (2017) GENETICS IN MEDICINE. 19(11). p.1226-1235 Add to list Journal Article A1 PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure Renate Zeevaert, Emmanuel Scalais, Laura Muiño Mosquera (UGent) , Linda De Meirleir, Carine De Beaufort, Michael Witsch, Jaak Jaeken and Jean De Schepper (UGent) (2016) ACTA CLINICA BELGICA. 71(6). p.435-437 Add to list Journal Article A1 ALG1-CDG: clinical and molecular characterization of 39 unreported patients Bobby G Ng, Sergey A Shiryaev, Daisy Rymen, Erik A Eklund, Kimiyo Raymond, Martin Kircher, Jose E Abdenur, Fusun Alehan, Alina T Midro, Michael J Bamshad, et al. (2016) HUMAN MUTATION. 37(7). p.653-660 Add to list Conference Paper C3 Mutations in PEX10 Are a Cause of Autosomal Recessive Spinocerebellar Ataxia Luc Régal, Merel Ebberink, Ronald Wanders, Hans Waterham, Linda De Meirleir, Jaak Jaeken, Rudy Van Coster (UGent) , Maarten Schrooten and Nathalie Goemans (2009) Neurology. 72(11). p.A396-A396 Add to list Journal Article A1 A new family with the mitochondrial tRNAGLU gene mutation m.14709T > C presenting with hydrops fetalis Ann Meulemans, Sara Seneca, Joél Smet (UGent) , Boel De Paepe (UGent) , Willy Lissens, Rudy Van Coster (UGent) , Anne Debeer, Linda De Meirleir and Jaak Jaeken (2007) EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. 11(1). p.17-20