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 ; Körner, Christian ; Babovic-Vuksanovic, Dusica ; Willemsen, Michel A. ; Gleeson, Joseph G. ; Lehle, Ludwig ; de Brouwer, Arjan P. M. ; Lefeber, Dirk J.
; 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 ; Körner, Christian ; Babovic-Vuksanovic, Dusica ; Willemsen, Michel A. ; Gleeson, Joseph G. ; Lehle, Ludwig ; de Brouwer, Arjan P. M. ; Lefeber, Dirk J. 
Zusammenfassung
Cerebellar hypoplasia and slowly progressive ophthalmological symptoms are common features in patients with congenital disorders of glycosylation type I. In a group of patients with congenital disorders of glycosylation type I with unknown aetiology, we have previously described a distinct phenotype with severe, early visual impairment and variable eye malformations, including optic nerve ...
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