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Stephan Rust
Stephan Rust
Boston Children's Hospital
Alpha (ethology)
Disulfiram
Biochemistry
Oligosaccharide
Chemistry
3
Papers
1
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0
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Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing.
2021
Christina M. Quitmann
Stephan Rust
Janine Reunert
Saskia Biskup
Barbara Fiedler
Thorsten Marquardt
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Severe Form of ßIV-Spectrin Deficiency With Mitochondrial Dysfunction and Cardiomyopathy-A Case Report.
2021
Frontiers in Neurology
Aziza Miriam Belkheir
Janine Reunert
Christiane Elpers
Lambert P. van den Heuvel
Richard J. Rodenburg
Anja Seelhöfer
Stephan Rust
Astrid Jeibmann
Michael Frosch
Thorsten Marquardt
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Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl‐oligosaccharide alpha‐1,2‐mannnosidase‐congenital disorders of glycosylation (MAN1B1‐CDG)
2021
Lisa Kemme
Marianne Grüneberg
Janine Reunert
Stephan Rust
Julien Park
Cordula Westermann
Yoshinao Wada
Oliver Schwartz
Thorsten Marquardt
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