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Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6
Ratbi, I., Falkenberg, K. D., Sommen, M., Al-Sheqaih, N., Guaoua, S., Vandeweyer, G., Urquhart, J. E., Chandler, K. E., Williams, S. G., Roberts, N. A., El Alloussi, M., Black, G. C., Ferdinandusse, S., Ramdi, H., Heimler, A., Fryer, A., Lynch, S-A., Cooper, N., Ong, K. R., Smith, C. E. L., & 11 others , 2015, In: American journal of human genetics. 97, 4, p. 535-545Research output: Contribution to journal › Article › Academic › peer-review
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Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder
Ebberink, M. S., Mooijer, P. A. W., Gootjes, J., Koster, J., Wanders, R. J. A. & Waterham, H. R., 2011, In: Human mutation. 32, 1, p. 59-69Research output: Contribution to journal › Article › Academic › peer-review
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A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11 beta gene
Ebberink, M. S., Koster, J., Visser, G., van Spronsen, F., Stolte-Dijkstra, I., Smit, G. P. A., Fock, J. M., Kemp, S., Wanders, R. J. A. & Waterham, H. R., 2012, In: Journal of medical genetics. 49, 5, p. 307-313Research output: Contribution to journal › Article › Academic › peer-review
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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
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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
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Human peroxisomal NAD+/NADH homeostasis is regulated by two independent NAD(H) shuttle systems
Chornyi, S., Costa, C. F., IJlst, L., Fransen, M., Wanders, R. J. A., van Roermund, C. W. T. & Waterham, H. R., 1 Sept 2023, In: Free radical biology & medicine. 206, p. 22-32 11 p.Research output: Contribution to journal › Article › Academic › peer-review
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