Jakobs, Cornelis

Progress in understanding 2‐hydroxyglutaric acidurias

Kranendijk, M., Struys, E. A., Salomons, G. S., Van der Knaap, M. S., & Jakobs, C. (2012) · Journal of Inherited Metabolic Disease

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 292

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

Mutations in the d-2-Hydroxyglutarate Dehydrogenase Gene Cause d-2-Hydroxyglutaric Aciduria

Struys, E. A., Salomons, G. S., Achouri, Y., Van Schaftingen, E., Grosso, S., Craigen, W. J., Verhoeven, N. M., & Jakobs, C. (2005) · The American Journal of Human Genetics

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 172

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

van de Kamp, J. M., Betsalel, O. T., Mercimek-Mahmutoglu, S., Abulhoul, L., Grünewald, S., Anselm, I., Azzouz, H., Bratkovic, D., de Brouwer, A., Hamel, B., et al. (2013) · Journal of Medical Genetics

Metabolism and Genetic DisordersGenetics and Neurodevelopmental Disorders

Cited by 164

Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase

Hogema, B. M., Gupta, M., Senephansiri, H., Burlingame, T. G., Taylor, M., Jakobs, C., Schutgens, R. B. H., Froestl, W., Snead, O. C., Diaz-Arrastia, R., et al. (2001) · Nature Genetics

Metabolism and Genetic DisordersEpilepsy research and treatment

Cited by 157

Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria

Nota, B., Struys, E. A., Pop, A., Jansen, E. E., Fernandez Ojeda, M. R., Kanhai, W. A., Kranendijk, M., van Dooren, S. J. M., Bevova, M. R., Sistermans, E. A., et al. (2013) · The American Journal of Human Genetics

Metabolism and Genetic DisordersMitochondrial Function and Pathology

Cited by 138

Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect

van de Kamp, J. M., Pouwels, P. J. W., Aarsen, F. K., ten Hoopen, L. W., Knol, D. L., de Klerk, J. B., de Coo, I. F., Huijmans, J. G. M., Jakobs, C., van der Knaap, M. S., et al. (2012) · Journal of Inherited Metabolic Disease

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 59

Seizure evolution and amino acid imbalances in murine succinate semialdehyde dehydrogenase (SSADH) deficiency

Gupta, M., Polinsky, M., Senephansiri, H., Snead, O. C., Jansen, E. E. W., Jakobs, C., & Gibson, K. M. (2004) · Neurobiology of Disease

Epilepsy research and treatmentNeuroscience and Neuropharmacology Research

Cited by 56

Focal neurometabolic alterations in mice deficient for succinate semialdehyde dehydrogenase

Gibson, K. M., Schor, D. S. M., Gupta, M., Guerand, W. S., Senephansiri, H., Burlingame, T. G., Bartels, H., Hogema, B. M., Bottiglieri, T., Froestl, W., et al. (2002) · Journal of Neurochemistry

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 55

Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1−/− mice)

SAUER, S., KOLKER, S., HOFFMANN, G., TENBRINK, H., JAKOBS, C., GIBSON, K., & OKUN, J. (2007) · Neurochemistry International

Metabolism and Genetic DisordersMitochondrial Function and Pathology

Cited by 50

Murine succinate semialdehyde dehydrogenase deficiency

Gupta, M., Hogema, B. M., Grompe, M., Bottiglieri, T. G., Concas, A., Biggio, G., Sogliano, C., Rigamonti, A. E., Pearl, P. L., Snead, O. C., et al. (2003) · Annals of Neurology

Metabolism and Genetic DisordersEpilepsy research and treatment

Cited by 50

Neurotransmitter alterations in embryonic succinate semialdehyde dehydrogenase (SSADH) deficiency suggest a heightened excitatory state during development

Jansen, E. E., Struys, E., Jakobs, C., Hager, E., Snead, O. C., & Gibson, K. M. (2008) · BMC Developmental Biology

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 41

Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency

Ndika, J. D. T., Johnston, K., Barkovich, J. A., Wirt, M. D., O'Neill, P., Betsalel, O. T., Jakobs, C., & Salomons, G. S. (2012) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 40

Peroxisomal acyl‐CoA‐oxidase deficiency: Two new cases

Carrozzo, R., Bellini, C., Lucioli, S., Deodato, F., Cassandrini, D., Cassanello, M., Caruso, U., Rizzo, C., Rizza, T., Napolitano, M. L., et al. (2008) · American Journal of Medical Genetics Part A

Metabolism and Genetic DisordersNeurological diseases and metabolism

Cited by 40

Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency

Donarum, E. A., Stephan, D. A., Larkin, K., Murphy, E. J., Gupta, M., Senephansiri, H., Switzer, R. C., Pearl, P. L., Snead, O. C., Jakobs, C., et al. (2006) · Journal of Inherited Metabolic Disease

Epilepsy research and treatmentMetabolism and Genetic Disorders

Cited by 27