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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
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SLC26A1 is a major determinant of sulfate homeostasis in humans
Pfau, A., López-Cayuqueo, K. I., Scherer, N., Wuttke, M., Wernstedt, A., González Fassrainer, D., Smith, D. E., van de Kamp, J. M., Ziegeler, K., Eckardt, K-U., Luft, F. C., Aronson, P. S., Köttgen, A., Jentsch, T. J. & Knauf, F., 1 Feb 2023, In: Journal of clinical investigation. 133, 3, e16184.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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