Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects - Görlacher, Marlen; Panagiotou, Eleftheria; Himmelreich, Nastassja; Hüllen, Andreas; Beedgen, Lars; Dimitrov, Bianca; Geiger, Virginia; Zielonka, Matthias; Peters, Verena; Strahl, Sabine; Vazquez Jimenez, Jaime; Kerst, Gunter; et al. (Molecular genetics and metabolism reports, 2020)
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