Publications by authors named "S Koelker"

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SCYL1 deficiency in CALFAN syndrome is associated with ER stress and cell death.
John Hellicar, Tal Dattner, Tian Sun, Lily Percival, Ruby Chrisp, Stefan Koelker

Dis Model Mech· November 2025

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Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in .
Kim M Thalwitzer, Jan H Driedger, Julie Xian, Afshin Saffari, Pia Zacher, Stefan Koelker

Neurology· August 2023

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The incidence of urea cycle disorders.
Marshall L Summar, Stefan Koelker, Debra Freedenberg, Cynthia Le Mons, Johannes Haberle

Mol Genet Metab· March 2014

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Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.
Thomas Cullup, Ay Lin Kho, Carlo Dionisi-Vici, Birgit Brandmeier, Frances Smith, Stefan Koelker

Nat Genet· January 2013

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Impact of short- and medium-chain organic acids, acylcarnitines, and acyl-CoAs on mitochondrial energy metabolism.
Sven Wolfgang Sauer, Juergen G Okun, Georg F Hoffmann, Stefan Koelker, Marina A Morath

Biochim Biophys Acta· October 2008

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