Timal, Sharita ; Hoischen, Alexander 
; Lehle, Ludwig ; Adamowicz, Maciej ; Huijben, Karin ; Sykut-Cegielska, Jolanta ; Paprocka, Justyna ; Jamroz, Ewa ; van Spronsen, Francjan J. ; Körner, Christian ; Gilissen, Christian ; Rodenburg, Richard J. ; Eidhof, Ilse ; Van den Heuvel, Lambert ; Thiel, Christian ; Wevers, Ron A. ; Morava, Eva ; Veltman, Joris ; Lefeber, Dirk J.
; Lehle, Ludwig ; Adamowicz, Maciej ; Huijben, Karin ; Sykut-Cegielska, Jolanta ; Paprocka, Justyna ; Jamroz, Ewa ; van Spronsen, Francjan J. ; Körner, Christian ; Gilissen, Christian ; Rodenburg, Richard J. ; Eidhof, Ilse ; Van den Heuvel, Lambert ; Thiel, Christian ; Wevers, Ron A. ; Morava, Eva ; Veltman, Joris ; Lefeber, Dirk J. 
Abstract
Congenital disorders of glycosylation type I (CDG-I) form a growing group of recessive neurometabolic diseases. Identification of disease genes is compromised by the enormous heterogeneity in clinical symptoms and the large number of potential genes involved. Until now, gene identification included the sequential application of biochemical methods in blood samples and fibroblasts. In genetically ...
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