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A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy
Rumping, L., Pouwels, P. J. W., Wolf, N. I., Rehmann, H., Wamelink, M. M. C., Waisfisz, Q., Jans, J. J. M., Prinsen, H. C. M. T., van de Kamp, J. M. & van Hasselt, P. M., 1 May 2023, In: JIMD reports. 64, 3, p. 217-222 6 p.Research output: Contribution to journal › Article › Academic › peer-review
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Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia
van de Kamp, J. M., Bökenkamp, A., Smith, D. E. C., Wamelink, M. M. C., Jansen, E. E. W., Struys, E. A., Waisfisz, Q., Verkleij, M., Hartmann, M. F., Wang, R., Wudy, S. A., Paganini, C., Rossi, A. & Finken, M. J. J., Jan 2023, In: Clinical genetics. 103, 1, p. 45-52 8 p.Research output: Contribution to journal › Article › Academic › peer-review
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Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective
Peters, T. M. A., Engelke, U. F. H., de Boer, S., Reintjes, J. T. G., Roullet, J-B., Broekman, S., de Vrieze, E., van Wijk, E., Wamelink, M. M. C., Artuch, R., Barić, I., Merx, J., Boltje, T. J., Martens, J., Willemsen, M. A. A. P., Verbeek, M. M., Wevers, R. A., Gibson, K. M. & Coene, K. L. M., 2023, (E-pub ahead of print) In: Journal of Inherited Metabolic Disease.Research output: Contribution to journal › Review article › Academic › peer-review
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