@article{UBHD-68876673, author={G{\"o}rlacher, Marlen and Panagiotou, Eleftheria and Himmelreich, Nastassja and H{\"u}llen, Andreas and Beedgen, Lars and Dimitrov, Bianca and Geiger, Virginia and Zielonka, Matthias and Peters, Verena and Strahl, Sabine and Vazquez Jimenez, Jaime and Kerst, Gunter and Thiel, Christian}, title={Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects}, year={2020}, pages={1-6}, language={eng}, issn={2214-4269}, volume={25(2020) vom: Dez.}, number={Artikel-ID 100673}, note={Gesehen am 11.02.2022}, journal={Molecular genetics and metabolism reports}, doi={10.1016/j.ymgmr.2020.100673}, } @article{UBHD-68465873, author={Himmelreich, Nastassja and Dimitrov, Bianca and Geiger, Virginia and Zielonka, Matthias and Hutter, Anna-Marlen and Beedgen, Lars and H{\"u}llen, Andreas and Breuer, Maximilian and Peters, Verena and Thiemann, Kai Christian and Hoffmann, Georg F. and Sinning, Irmgard and Ziegler, Andreas and Thiel, Christian}, title={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}, year={2019}, pages={938-951}, language={eng}, issn={1098-1004}, volume={40}, number={7}, note={Gesehen am 10.12.2019}, journal={Human mutation}, doi={10.1002/humu.23764}, }