Stefan Koelker
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Folate and B Vitamins Research, Alcoholism and Thiamine Deficiency, Epilepsy research and treatment, Mitochondrial Function and Pathology
Most-Cited Works
- → The incidence of urea cycle disorders(2013)316 cited
- → Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy(2012)279 cited
- → Impact of short- and medium-chain organic acids, acylcarnitines, and acyl-CoAs onmitochondrial energy metabolism(2008)55 cited
- Acrodermatitis acidemica secondary to malnutrition in glutaric aciduria type I.(2001)
- A NON-ENZYMATIC FUNCTION OF 17-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 10 IS REQUIRED FOR MITOCHONDRIAL INTEGRITY AND CELL SURVIVAL(2009)
- → Cystathionine β-Synthase Deficiency in the E-HOD Registry-Part II: Dietary and Pharmacological Treatment(2025)
- A newborn patient with carbonic anhydrase VA deficiency presenting with hyperammonemic encephalopathy(2016)
- → Analysis of the functional muscle–bone unit of the forearm in juvenile patients with phenylketonuria (PKU) by peripheral quantitative computed tomography(2009)