Smeitink, Jan

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study

Suomalainen, A., Elo, J. M., Pietiläinen, K. H., Hakonen, A. H., Sevastianova, K., Korpela, M., Isohanni, P., Marjavaara, S. K., Tyni, T., Kiuru-Enari, S., et al. (2011) · The Lancet Neurology

Metabolism and Genetic DisordersMitochondrial Function and Pathology

Cited by 427

Mammalian Mitochondrial Complex I: Biogenesis, Regulation, and Reactive Oxygen Species Generation

Koopman, W. J. H., Nijtmans, L. G. J., Dieteren, C. E. J., Roestenberg, P., Valsecchi, F., Smeitink, J. A. M., & Willems, P. H. G. M. (2010) · Antioxidants & Redox Signaling

Mitochondrial Function and PathologyCoenzyme Q10 studies and effects

Cited by 411

Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease

Distelmaier, F., Koopman, W. J. H., van den Heuvel, L. P., Rodenburg, R. J., Mayatepek, E., Willems, P. H. G. M., & Smeitink, J. A. M. (2008) · Brain

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 310

Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene

Waterham, H. R., Wijburg, F. A., Hennekam, R. C. M., Vreken, P., Poll-The, B. T., Dorland, L., Duran, M., Jira, P. E., Smeitink, J. A. M., Wevers, R. A., et al. (1998) · The American Journal of Human Genetics

Metabolism and Genetic DisordersCholesterol and Lipid Metabolism

Cited by 296

Application of a ketogenic diet in children with autistic behavior: Pilot study

Evangeliou, A., Vlachonikolis, I., Mihailidou, H., Spilioti, M., Skarpalezou, A., Makaronas, N., Prokopiou, A., Christodoulou, P., Liapi-Adamidou, G., Helidonis, E., et al. (2003) · Journal of Child Neurology

Diet and metabolism studiesAutism Spectrum Disorder Research

Cited by 279

Mitochondrial complex I: structure, function and pathology

Janssen, R. J. R. J., Nijtmans, L. G., Heuvel, L. P. V. D., & Smeitink, J. A. M. (2006) · Journal of Inherited Metabolic Disease

Mitochondrial Function and PathologyEnzyme Structure and Function

Cited by 276

Whole exome sequencing of suspected mitochondrial patients in clinical practice

Wortmann, S. B., Koolen, D. A., Smeitink, J. A., den van Heuvel, L., & Rodenburg, R. J. (2015) · Journal of Inherited Metabolic Disease

Genomics and Rare DiseasesMitochondrial Function and Pathology

Cited by 233

FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders

Lehtonen, J. M., Forsström, S., Bottani, E., Viscomi, C., Baris, O. R., Isoniemi, H., Höckerstedt, K., Österlund, P., Hurme, M., Jylhävä, J., et al. (2016) · Neurology

Mitochondrial Function and PathologyFibroblast Growth Factor Research

Cited by 220

Mitochondrial Translation and Beyond: Processes Implicated in Combined Oxidative Phosphorylation Deficiencies

Smits, P., Smeitink, J., & van den Heuvel, L. (2010) · Journal of Biomedicine and Biotechnology

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 202

IDH2 Mutations in Patients with d -2-Hydroxyglutaric Aciduria

Kranendijk, M., Struys, E. A., van Schaftingen, E., Gibson, K. M., Kanhai, W. A., van der Knaap, M. S., Amiel, J., Buist, N. R., Das, A. M., de Klerk, J. B., et al. (2010) · Science

Metabolism and Genetic DisordersBiochemical Acid Research Studies

Cited by 195

Inactivating PAPSS2 Mutations in a Patient with Premature Pubarche

Noordam, C., Dhir, V., McNelis, J. C., Schlereth, F., Hanley, N. A., Krone, N., Smeitink, J. A., Smeets, R., Sweep, F. C. G. J., Grinten, H. L. C.-V. D., et al. (2009) · New England Journal of Medicine

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 169

Succinate in dystrophic white matter: a proton magnetic resonance spectroscopy finding characteristic for complex II deficiency

Brockmann, K., Bjornstad, A., Dechent, P., Korenke, C. G., Smeitink, J., Trijbels, J. M. F., Athanassopoulos, S., Villagran, R., Skjeldal, O. H., Wilichowski, E., et al. (2002) · Annals of Neurology

Metabolism and Genetic DisordersMitochondrial Function and Pathology

Cited by 81

Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival

Barth, P. G., Majoie, C. B. L. M., Gootjes, J., Wanders, R. J. A., Waterham, H. R., van der Knaap, M. S., de Klerk, J. B. C., Smeitink, J., & Poll-The, B. T. (2004) · Neurology

Metabolism and Genetic DisordersHereditary Neurological Disorders

Cited by 43

Dissecting Drug-Induced Cytotoxicity and Metabolic Dysfunction in Conditionally Immortalized Human Proximal Tubule Cells

Hoogstraten, C. A., Smeitink, J. A. M., Russel, F. G. M., & Schirris, T. J. J. (2022) · Frontiers in Toxicology

Acute Kidney Injury ResearchChemotherapy-induced organ toxicity mitigation

Cited by 30