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Clinical Chemistry|November 20, 2004
Optimized spectrophotometric assay for the completely activated pyruvate dehydrogenase complex in fibroblastsMarina A Schwab, Stefan Kölker, Lambert P van den Heuvel, et al.Journal of Inherited Metabolic Disease|May 4, 2016
Genetic cause and prevalence of hydroxyprolinemiaChristian Staufner, Tobias B Haack, Patrik Feyh, et al.Scientific Reports|July 16, 2020
Glycogen accumulation, central carbon metabolism, and aging of hematopoietic stem and progenitor cellsLaura Poisa-Beiro, Judith Thoma, Jonathan Landry, et al.Human Molecular Genetics|June 27, 2023
Insights into energy balance dysregulation from a mouse model of methylmalonic aciduriaMarie Lucienne, Raffaele Gerlini, Birgit Rathkolb, et al.American Journal of Human Genetics|July 19, 2016
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile HepatopathyRobert Kopajtich, Kei Murayama, Andreas R Janecke, et al.EMBO Molecular Medicine|January 16, 2010
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survivalKatharina Rauschenberger, Katja Schöler, Jörn Oliver Sass, et al.Pageof 2