Date: 2021 / Author/Creator: Rust, Stephan - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Date 2021 Author/Creator Rust, Stephan

1. 3‐Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency—A novel disorder of valine metabolism. Issue 6 (5th July 2021)

Authors:: Meyer, Melanie; Hollenbeck, Jana C.; Reunert, Janine; Seelhöfer, Anja; Rust, Stephan; Fobker, Manfred; Biskup, Saskia; Och, Ulrike; Linden, Mechthild; Sass, Jörn Oliver; Marquardt, Thorsten
Journal:: Journal of inherited metabolic disease
Issue:: Volume 44:Issue 6(2021)
Page Start:: 1323
Record Type:: Journal Article
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2. A mutation in the neonatal isoform of SCN2A causes neonatal‐onset epilepsy. Issue 3 (7th December 2021)

Authors:: Penkl, Anja; Reunert, Janine; Debus, Otfried M.; Homann, Anna; Och, Ulrike; Rust, Stephan; Marquardt, Thorsten
Journal:: American journal of medical genetics
Issue:: Volume 188:Issue 3(2022)
Page Start:: 941
Record Type:: Journal Article
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3. Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl‐oligosaccharide alpha‐1, 2‐mannnosidase‐congenital disorders of glycosylation (MAN1B1‐CDG). Issue 1 (20th March 2021)

Authors:: Kemme, Lisa; Grüneberg, Marianne; Reunert, Janine; Rust, Stephan; Park, Julien; Westermann, Cordula; Wada, Yoshinao; Schwartz, Oliver; Marquardt, Thorsten
Journal:: JIMD reports
Issue:: Volume 60:Issue 1(2021)
Page Start:: 42
Record Type:: Journal Article
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4. Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing. (July 2021)

Authors:: Quitmann, Christina M.; Rust, Stephan; Reunert, Janine; Biskup, Saskia; Fiedler, Barbara; Marquardt, Thorsten
Journal:: Child neurology open
Issue:: Volume 8(2021)
Page Start:
Record Type:: Journal Article
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