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
Himmelreich, Nastassja, Dimitrov, Bianca, Geiger, Virginia, Zielonka, Matthias, Hutter, Anna‐Marlen, Beedgen, Lars, Hüllen, Andreas, Breuer, Maximilian, Peters, Verena, Thiemann, Kai‐Christian, Hoffmann, Georg F., Sinning, Irmgard, Dupré, Thierry, Vuillaumier‐Barrot, Sandrine, Barrey, Catherine, Denecke, Jonas, Kölfen, Wolfgang, Düker, Gesche, Ganschow, Rainer, Lentze, Michael J., Moore, Stuart, Seta, Nathalie, Ziegler, Andreas, Thiel, Christian
Published in Human mutation (01.07.2019)
Published in Human mutation (01.07.2019)
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Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG
Dimitrov, Bianca, Himmelreich, Nastassja, Hipgrave Ederveen, Agnes L., Lüchtenborg, Christian, Okun, Jürgen G., Breuer, Maximilian, Hutter, Anna-Marlen, Carl, Matthias, Guglielmi, Luca, Hellwig, Andrea, Thiemann, Kai Christian, Jost, Markus, Peters, Verena, Staufner, Christian, Hoffmann, Georg F., Hackenberg, Annette, Paramasivam, Nagarajan, Wiemann, Stefan, Eils, Roland, Schlesner, Matthias, Strahl, Sabine, Brügger, Britta, Wuhrer, Manfred, Christoph Korenke, G., Thiel, Christian
Published in Molecular genetics and metabolism (01.03.2018)
Published in Molecular genetics and metabolism (01.03.2018)
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