TY  - GEN
AU  - Himmelreich,Nastassja
AU  - Dimitrov,Bianca
AU  - Geiger,Virginia
AU  - Zielonka,Matthias
AU  - Hutter,Anna-Marlen
AU  - Beedgen,Lars
AU  - Hüllen,Andreas
AU  - Breuer,Maximilian
AU  - Peters,Verena
AU  - Thiemann,Kai-Christian
AU  - Hoffmann,Georg F
AU  - Sinning,Irmgard
AU  - Dupré,Thierry
AU  - Vuillaumier-Barrot,Sandrine
AU  - Barrey,Catherine
AU  - Denecke,Jonas
AU  - Kölfen,Wolfgang
AU  - Düker,Gesche
AU  - Ganschow,Rainer
AU  - Lentze,Michael J
AU  - Moore,Stuart
AU  - Seta,Nathalie
AU  - Ziegler,Andreas
AU  - Thiel,Christian
TI  - 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
SN  - 1098-1004
PY  - 2020///0317
KW  - Animals
KW  - COS Cells
KW  - Cells, Cultured
KW  - Child, Preschool
KW  - Chlorocebus aethiops
KW  - Congenital Disorders of Glycosylation
KW  - genetics
KW  - Female
KW  - Humans
KW  - Infant
KW  - Male
KW  - Mannosyltransferases
KW  - Mutation
KW  - Open Reading Frames
KW  - Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase
KW  - deficiency
KW  - Polymorphism, Single Nucleotide
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
UR  - https://doi.org/10.1002/humu.23764
ER  -