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

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Main Authors: Dimitrov, Bianca (Author) , Himmelreich, Nastassja (Author) , Lüchtenborg, Christian (Author) , Okun, Jürgen G. (Author) , Breuer, Maximilian (Author) , Hutter, Anna-Marlen (Author) , Carl, Matthias (Author) , Guglielmi, Luca (Author) , Hellwig, Andrea (Author) , Thiemann, Kai Christian (Author) , Jost, Markus (Author) , Peters, Verena (Author) , Staufner, Christian (Author) , Hoffmann, Georg F. (Author) , Paramasivam, Nagarajan (Author) , Eils, Roland (Author) , Strahl, Sabine (Author) , Brügger, Britta (Author) , Korenke, Christoph (Author) , Thiel, Christian (Author)
Format: Article (Journal)
Language:English
Published: 2018
In: Molecular genetics and metabolism
Year: 2018, Volume: 123, Issue: 3, Pages: 364-374
ISSN:1096-7206
DOI:10.1016/j.ymgme.2018.01.008
Online Access:Resolving-System, Informationsseite zum Volltext, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.ymgme.2018.01.008
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Author Notes:Bianca Dimitrov, Nastassja Himmelreich, Agnes L. Hipgrave Ederveen, Christian Lüchtenborg, Jürgen G. Okun, Maximilian Breuer, Anna-Marlen Hutter, Matthias Carl, Luca Guglielmi, Andrea Hellwig, Kai Christian Thiemann, Markus Jost, Verena Peters, Christian Staufner, Georg F. Hoffmann, Annette Hackenberg, Nagarajan Paramasivam, Stefan Wiemann, Roland Eils, Matthias Schlesner, Sabine Strahl, Britta Brügger, Manfred Wuhrer, G. Christoph Korenke, Christian Thiel
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Item Description:Gesehen am 12.03.2020
Physical Description:Online Resource
ISSN:1096-7206
DOI:10.1016/j.ymgme.2018.01.008

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