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Dive into the research topics where S.J.M. van Dooren is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Research output
- 17 Article
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Simultaneous determination of cytosolic aminoacyl-tRNA synthetase activities by LC-MS/MS
Mendes, M. I., Wolf, N. I., Rudinger-Thirion, J., Lenz, D., Frugier, M., Verloo, P., Mandel, H., Manor, J., Kassel, R., Corpeleijn, W. E., van der Rijt, S., Schroor, E. M., van Dooren, S. J. M., Staufner, C., Salomons, G. S. & Smith, D. E. C., 11 Dec 2024, In: Nucleic acids research. 52, 22, p. e107Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile7 Downloads (Pure) -
Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency
Pop, A., Smith, D. E. C., Kirby, T., Walters, D., Gibson, K. M., Mahmoudi, S., van Dooren, S. J. M., Kanhai, W. A., Fernandez-Ojeda, M. R., Wever, E. J. M., Koster, J., Waterham, H. R., Grob, B., Roos, B., Wamelink, M. M. C., Chen, J., Natesan, S. & Salomons, G. S., Jul 2020, In: Molecular genetics and metabolism. 130, 3, p. 172-178 7 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients
Beerepoot, S., van Dooren, S. J. M., Salomons, G. S., Boelens, J. J., Jacobs, E. H., van der Knaap, M. S., van Kuilenburg, A. B. P. & Wolf, N. I., 1 Oct 2020, In: Neurogenetics. 21, 4, p. 289-299 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile21 Downloads (Pure) -
D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants
Pop, A., Struys, E. A., Jansen, E. E. W., Fernandez, M. R., Kanhai, W. A., van Dooren, S. J. M., Ozturk, S., van Oostendorp, J., Lennertz, P., Kranendijk, M., van der Knaap, M. S., Gibson, K. M., van Schaftingen, E. & Salomons, G. S., 1 Jul 2019, In: Human mutation. 40, 7, p. 975-982 8 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile13 Downloads (Pure) -
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy
Coughlin, C. R., Swanson, M. A., Spector, E., Meeks, N. J. L., Kronquist, K. E., Aslamy, M., Wempe, M. F., van Karnebeek, C. D. M., Gospe, S. M., Aziz, V. G., Tsai, B. P., Gao, H., Nagy, P. L., Hyland, K., van Dooren, S. J. M., Salomons, G. S. & Van Hove, J. L. K., Mar 2019, In: Journal of inherited metabolic disease. 42, 2, p. 353-361 9 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile38 Downloads (Pure)