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.
; 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. 
Zusammenfassung
Deficiency of beta-1,4 mannosyltransferase (MT-1) congenital disorder of glycosylation (CDG), due to ALG1 gene mutations. Features in 9 patients reported previously consisted of prenatal growth retardation, pregnancy-induced maternal hypertension and fetal hydrops. Four patients died before 5 years of age, and survivors showed a severe psychomotor retardation. We report on 7 patients with ...
Nur für Besitzer und Autoren: Kontrollseite des Eintrags
Altmetric