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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
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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
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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
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