Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG

Autor: 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
Zdroj: In Molecular Genetics and Metabolism March 2018 123(3):364-374
Databáze: ScienceDirect
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