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Anja Seelhöfer
Anja Seelhöfer
Glycosylation
Phenotype
Glucagon test
Glycogen storage disease
PGM1
3
Papers
17
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3-Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency-A novel disorder of valine metabolism.
2021
Journal of Inherited Metabolic Disease
Mélanie Meyer
Jana C. Hollenbeck
Janine Reunert
Anja Seelhöfer
Stephan Rust
Manfred Fobker
Saskia Biskup
Ulrike Och
Mechthild Linden
Jörn Oliver Sass
Thorsten Marquardt
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Transient N ‐glycosylation abnormalities likely due to a de novo loss‐of‐function mutation in the delta subunit of coat protein I
2019
American Journal of Medical Genetics Part A
Janine Reunert
Stephan Rust
Marianne Grüneberg
Anja Seelhöfer
Daniel Kurz
Volker Ocker
Dorothea Weber
Ralph Fingerhut
Thorsten Marquardt
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News on Clinical Details and Treatment in PGM1-CDG.
2015
Esther Schrapers
Laura C. Tegtmeyer
Gunter Simic-Schleicher
V. Debus
Janine Reunert
Sebastian Balbach
Karin Klingel
Ingrid Du Chesne
Anja Seelhöfer
Manfred Fobker
Thorsten Marquardt
Stephan Rust
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Citations (14)
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