Stefan Koelker

The incidence of urea cycle disorders

Marshall Summar, Stefan Koelker, Debra Freedenberg et al. · Molecular Genetics and Metabolism · 2013 · 322 citations · Full text

Life Sciences, Nephrology, Pediatric Nephrology +4

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

Thomas Cullup, Ay Lin Kho, Carlo Dionisi‐Vici et al. · Nature Genetics · 2012 · 280 citations

Life Sciences, Genetics, Molecular Genetics +14

Impact of short- and medium-chain organic acids, acylcarnitines, and acyl-CoAs onmitochondrial energy metabolism

Sven W. Sauer, Juergen G. Okun, Georg F. Hoffmann et al. · Biochimica et Biophysica Acta (BBA) - Bioenergetics · 2008 · 55 citations

Life Sciences, Biochemistry, Chemistry +14

Acrodermatitis acidemica secondary to malnutrition in glutaric aciduria type I.

S Niiyama, Stefan Koelker, Ingrid Degen et al. · PubMed · 2001 · 22 citations

Medicine, Dermatology, Nutritional Sciences +13

A NON-ENZYMATIC FUNCTION OF 17-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 10 IS REQUIRED FOR MITOCHONDRIAL INTEGRITY AND CELL SURVIVAL

Johannes Zschocke, K Rausehenberger, K Schoeler et al. · Oxford University Research Archive (ORA) (University of Oxford) · 2009 · 21 citations

Life Sciences, Biochemistry, Cell Biology +14