Smeitink, Jan A.M.

Top Publications

Top Publications Authored or Co-Authored by "Smeitink, Jan A.M."

• Inhibition of complex I of the electron transport chain causes O 2-.-mediated mitochondrial outgrowth

  American Journal of Physiology - Cell Physiology, Volume 288, No. 6 57-6, Year 2005, Citations 249
• Tyrosine hydroxylase deficiency: A treatable disorder of brain catecholamine biosynthesis

  Brain, Volume 133, No. 6, Year 2010, Citations 196
• 3-Methylglutaconic aciduria - Lessons from 50 genes and 977 patients

  Journal of Inherited Metabolic Disease, Volume 36, No. 6, Year 2013, Citations 77
• Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy

  Human Mutation, Volume 36, No. 1, Year 2015, Citations 76
• A scale to monitor progression and treatment of mitochondrial disease in children

  Neuromuscular Disorders, Volume 16, No. 12, Year 2006, Citations 46