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Date 2020 Author/Creator Rust, Stephan

2. N‐glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency. Issue 6 (14th September 2020)

Authors:
Park, Julien H.; Mealer, Robert G.; Elias, Abdallah F.; Hoffmann, Susanne; Grüneberg, Marianne; Biskup, Saskia; Fobker, Manfred; Haven, Jaclyn; Mangels, Ute; Reunert, Janine; Rust, Stephan; Schoof, Jonathan; Schwanke, Corbin; Smoller, Jordan W.; Cummings, Richard D.; Marquardt, Thorsten
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 6(2020)
Page Start:
1370
Record Type:
Journal Article
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3. TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents. Issue 4 (2nd June 2020)

Authors:
Park, Julien H; Ousingsawat, Jiraporn; Cabrita, Inês; Bettels, Ruth E; Große-Onnebrink, Jörg; Schmalstieg, Christian; Biskup, Saskia; Reunert, Janine; Rust, Stephan; Schreiber, Rainer; Kunzelmann, Karl; Marquardt, Thorsten
Journal:
Journal of medical genetics
Issue:
Volume 58:Issue 4(2021)
Page Start:
247
Record Type:
Journal Article
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4. TRAPγ-CDG shows asymmetric glycosylation and an effect on processing of proteins required in higher organisms. Issue 3 (24th April 2020)

Authors:
Dittner-Moormann, Sabine; Lourenco, Charles Marques; Reunert, Janine; Nishinakamura, Ryuichi; Tanaka, Satomi S; Werner, Claudius; Debus, Volker; Zimmer, Klaus-Peter; Wetzel, Gabriele; Naim, Hassan Y; Wada, Yoshinao; Rust, Stephan; Marquardt, Thorsten
Journal:
Journal of medical genetics
Issue:
Volume 58:Issue 3(2021)
Page Start:
213
Record Type:
Journal Article
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