-
5,10-methenyltetrahydrofolate synthetase deficiency: An extreme rare defect of folate metabolism in two Dutch siblings
Liepina, L., Smith, D. E. C., Huidekoper, H., Zeidler, S., Wamelink, M., de Wit, M-C., Wilke, M., Ruijter, G., Bierau, J. R. & Blom, H. J., 1 Mar 2024, In: JIMD reports. 65, 2, p. 49-55 7 p.Research output: Contribution to journal › Article › Academic › peer-review
-
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
-
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
- All publications
