HR Waterham

20182019
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Research Output 2018 2019

Glutaminase deficiency caused by short tandem repeat expansion in GLS

van Kuilenburg, A. B. P., Tarailo-Graovac, M., Richmond, P. A., Drögemöller, B. I., Pouladi, M. A., Leen, R., Brand-Arzamendi, K., Dobritzsch, D., Dolzhenko, E., Eberle, M. A., Hayward, B., Jones, M. J., Karbassi, F., Kobor, M. S., Koster, J., Kumari, D., Li, M., MacIsaac, J., McDonald, C., Meijer, J. & 25 othersNguyen, C., Rajan-Babu, I. S., Scherer, S. W., Sim, B., Trost, B., Tseng, L. A., Turkenburg, M., van Vugt, J. J. F. A., Veldink, J. H., Walia, J. S., Wang, Y., van Weeghel, M., Wright, G. E. B., Xu, X., Yuen, R. K. C., Zhang, J., Ross, C. J., Wasserman, W. W., Geraghty, M. T., Santra, S., Wanders, R. J. A., Wen, X. Y., Waterham, H. R., Usdin, K. & van Karnebeek, C. D. M., 2019, In : New England Journal of Medicine. 380, 15, p. 1433-1441

Research output: Contribution to journalArticleAcademicpeer-review

Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

Bleeker, J. C., Kok, I. L., Ferdinandusse, S., van der Pol, W. L., Cuppen, I., Bosch, A. M., Langeveld, M., Derks, T. G. J., Williams, M., de Vries, M., Mulder, M. F., Gozalbo, E. R., de Sain-van der Velden, M. G. M., Rennings, A. J., Schielen, P. J. C. I., Dekkers, E., Houtkooper, R. H., Waterham, H. R., Pras-Raves, M. L., Wanders, R. J. A. & 4 othersvan Hasselt, P. M., Schoenmakers, M., Wijburg, F. A. & Visser, G., 2019, In : Journal of Inherited Metabolic Disease. 42, 3, p. 414-423

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency

Bleeker, J. C., Kok, I. L., Ferdinandusse, S., de Vries, M., Derks, T. G. J., Mulder, M. F., Williams, M., Gozalbo, E. R., Bosch, A. M., van den Hurk, D. T., de Sain-van der Velden, M. G. M., Waterham, H. R., Wijburg, F. A. & Visser, G., 2019, In : Journal of Inherited Metabolic Disease. 42, 1, p. 159-168

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Development and validation of a severity scoring system for Zellweger spectrum disorders

Klouwer, F. C. C., Meester-Delver, A., Vaz, F. M., Waterham, H. R., Hennekam, R. C. M. & Poll-The, B. T., 2018, In : Clinical Genetics. 93, 3, p. 613-621

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Functional characterisation of peroxisomal β-oxidation disorders in fibroblasts using lipidomics

Herzog, K., Pras-Raves, M. L., Ferdinandusse, S., Vervaart, M. A. T., Luyf, A. C. M., van Kampen, A. H. C., Wanders, R. J. A., Waterham, H. R. & Vaz, F. M., 2018, In : Journal of Inherited Metabolic Disease. 41, 3, p. 479-487

Research output: Contribution to journalArticleAcademicpeer-review

Open Access