Amsterdam Gastroenterology Endocrinology Metabolism
-
Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene
Waterham, H. R., Koster, J., Ebberink, M. S., Ješina, P., Zeman, J., Nosková, L., Kmoch, S., Devic, P., Cheillan, D., Wanders, R. J. A. & Ferdinandusse, S., 1 Nov 2023, In: Genetics in medicine. 25, 11, 100944.Research output: Contribution to journal › Article › Academic › peer-review
-
Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases
Berner, J., van de Wetering, C., Jimenez Heredia, R., Rashkova, C., Ferdinandusse, S., Koster, J., Weiss, J. G., Frohne, A., Giuliani, S., Waterham, H. R., Castanon, I., Brunner, J. R. & Boztug, K., Oct 2023, In: Journal of allergy and clinical immunology. 152, 4, p. 1025-1031.e2Research output: Contribution to journal › Article › Academic › peer-review
-
Differential roles for ACBD4 and ACBD5 in peroxisome–ER interactions and lipid metabolism
Costello, J. L., Koster, J., Silva, B. S. C., Worthy, H. L., Schrader, T. A., Hacker, C., Passmore, J., Kuypers, F. A., Waterham, H. R. & Schrader, M., 1 Aug 2023, In: Journal of Biological Chemistry. 299, 8, 105013.Research output: Contribution to journal › Article › Academic › peer-review
- All publications