Salomons, Gajja S.

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

Cerebral creatine deficiency syndromes: Clinical aspects, treatment and pathophysiology

Stockler, S., Schutz, P. W., & Salomons, G. S. (2007) · Subcellular Biochemistry

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 180

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

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

Creatine and Creatine Kinase in Health and Disease – A Bright Future Ahead?

Wyss, M., Braissant, O., Pischel, I., Salomons, G. S., Schulze, A., Stockler, S., & Wallimann, T. (2007) · Subcellular Biochemistry

Muscle metabolism and nutritionMetabolism and Genetic Disorders

Cited by 46

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

Genotype–phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1

van de Kamp, J. M., Errami, A., Howidi, M., Anselm, I., Winter, S., Phalin‐Roque, J., Osaka, H., van Dooren, S. J. M., Mancini, G. M., Steinberg, S. J., et al. (2015) · Clinical Genetics

Metabolism and Genetic DisordersGenetics and Neurodevelopmental Disorders

Cited by 33

Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes

Kirby, T., Walters, D. C., Brown, M., Jansen, E., Salomons, G. S., Turgeon, C., Rinaldo, P., Arning, E., Ashcraft, P., Bottiglieri, T., et al. (2020) · Metabolic Brain Disease

Metabolism and Genetic DisordersMetabolomics and Mass Spectrometry Studies

Cited by 24

Global developmental delay in guanidionacetate methyltransferase deficiency: differences in formal testing and clinical observation

Verbruggen, K. T., Knijff, W. A., Soorani-Lunsing, R. J., Sijens, P. E., Verhoeven, N. M., Salomons, G. S., Goorhuis-Brouwer, S. M., & van Spronsen, F. J. (2007) · European Journal of Pediatrics

Metabolism and Genetic DisordersGenetics and Neurodevelopmental Disorders

Cited by 17