Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus.

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作者： Nastassja,Himmelreich ^[1] ; Bianca,Dimitrov ^[1] ; Virginia,Geiger ^[1] ; Matthias,Zielonka ^[1] ; Anna-Marlen,Hutter ^[1] ; Lars,Beedgen ^[1] ; Andreas,Hüllen ^[1] ; Maximilian,Breuer ^[1] ; Verena,Peters ^[1] ; Kai-Christian,Thiemann ^[1] ; Georg F,Hoffmann ^[1] ; Irmgard,Sinning ^[2] ; Thierry,Dupré ^[3] ; Sandrine,Vuillaumier-Barrot ^[4] ; Catherine,Barrey ^[3] ; Jonas,Denecke ^[4] ; Wolfgang,Kölfen ^[5] ; Gesche,Düker ^[6] ; Rainer,Ganschow ^[7] ; Michael J,Lentze ^[8] ; Stuart,Moore ^[8] ; Nathalie,Seta ^[8] ; Andreas,Ziegler ^[4] ; Christian,Thiel ^[3]

作者单位： Center for Child and Adolescent Medicine, Department Pediatrics I, University of Heidelberg, Heidelberg, Germany. ^[1] Biochemistry Center (BZH), Heidelberg University, Heidelberg, Germany. ^[2] Department Biochimie, AP-HP, Hôpital Bichat, Biochimie, Paris, France. ^[3] Faculté de Médecine Xavier Bichat, INSERM U1149, Université Paris Diderot, Paris, France. ^[4] Pédiatrie, Hôpital Sainte Camille, Bry-sur-Marne, France. ^[5] Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. ^[6] Zentrum für Kinder und Jugendmedizin, Städtischen Kliniken Mönchengladbach, Mönchengladbach, Germany. ^[7] Department of Pediatrics, Children's Hospital Medical Center, University Hospitals Bonn, Bonn, Germany. ^[8]

关键词 AAGRP ALG3 CDG-I congenital disorders of glycosylation hybrid protein mannosyltransferase