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• SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis
  Article (Journal), Online Resource
• Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation
  Article (Journal), Online Resource
• Establishing an auxin-inducible GFP nanobody-based acute protein knockdown system to mimic hypomorphic mutations during early medaka embryogenesis
  Article (Journal), Online Resource
• Establishing an auxin-inducible GFP nanobody-based acute protein knockdown system to mimic hypomorphic mutations during early medaka embryogenesis
  Article (Journal), Chapter/Article, Online Resource
• A novel missense variant in ultrarare SLC35A1-CDG alters cellular glycosylation, lipid, and energy metabolism without affecting CDG serum markers
  Article (Journal), Online Resource

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Related Authors

• Himmelreich, Nastassja
• Hoffmann, Georg F.
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