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Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects

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Main Authors: Görlacher, Marlen (Author) , Panagiotou, Eleftheria (Author) , Himmelreich, Nastassja (Author) , Hüllen, Andreas (Author) , Beedgen, Lars (Author) , Dimitrov, Bianca (Author) , Geiger, Virginia (Author) , Zielonka, Matthias (Author) , Peters, Verena (Author) , Strahl, Sabine (Author) , Vazquez Jimenez, Jaime (Author) , Kerst, Gunter (Author) , Thiel, Christian (Author)
Format: Article (Journal)
Language:English
Published: 7 November 2020
In: Molecular genetics and metabolism reports
Year: 2020, Volume: 25, Pages: 1-6
ISSN:2214-4269
DOI:10.1016/j.ymgmr.2020.100673
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.ymgmr.2020.100673
Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S2214426920301191?via%3Dihub#!
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Author Notes:Marlen Görlacher, Eleftheria Panagiotou, Nastassja Himmelreich, Andreas Hüllen, Lars Beedgen, Bianca Dimitrov, Virginia Geiger, Matthias Zielonka, Verena Peters, Sabine Strahl, Jaime Vázquez-Jiménez, Gunter Kerst, Christian Thiel
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Item Description:Gesehen am 11.02.2022
Physical Description:Online Resource
ISSN:2214-4269
DOI:10.1016/j.ymgmr.2020.100673

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