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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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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
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