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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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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., Nieuwint, A. W. M., Barth, M., Ben-Omran, T., Hoffmann, G. F., de Lonlay, P., McDonald, M. T., Meberg, A., Muntau, A. C., Nuoffer, J.-M. & Parini, R. & 8 others, , 2013, In: American journal of human genetics. 92, 4, p. 627-631Research output: Contribution to journal › Article › Academic › peer-review
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Characterization of neurometabolic 2-hydroxyglutaric acidurias and discovery of D-2-hydroxyglutaric aciduria type II
Kranendijk, M., 2012Research output: PhD thesis › Research HvA, graduation HvA (not in use)
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