HR Waterham

20182019

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2019

A mutation creating an upstream translation initiation codon in SLC22A5 5′UTR is a frequent cause of primary carnitine deficiency

Ferdinandusse, S., te Brinke, H., Ruiter, J. P. N., Haasjes, J., Oostheim, W., van Lenthe, H., IJlst, L., Ebberink, M. S., Wanders, R. J. A., Vaz, F. M. & Waterham, H. R., 1 Oct 2019, In : Human Mutation. 40, 10, p. 1899-1904

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands

Jager, E. A., Kuijpers, M. M., Bosch, A. M., Mulder, M. F., Gozalbo, E. R., Visser, G., de Vries, M., Williams, M., Waterham, H. R., van Spronsen, F. J., Schielen, P. C. J. I. & Derks, T. G. J., 1 Sep 2019, In : Journal of Inherited Metabolic Disease. 42, 5, p. 890-897

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

An UPLC-MS/MS assay to measure glutathione as marker for oxidative stress in cultured cells

Herzog, K., Ijlst, L., van Cruchten, A. G., van Roermund, C. W. T., Kulik, W., Wanders, R. J. A. & Waterham, H. R., 1 Mar 2019, In : Metabolites. 9, 3, 45.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy

van Karnebeek, C. D. M., Ramos, R. B. J., Wen, X-Y., Tarailo-Graovac, M., Gleeson, J. G., Skrypnyk, C., Brand-Arzamendi, K., Karbassi, F., Issa, M. Y., van der Lee, R., Drögemöller, B. I., Koster, J., Rousseau, J., Campeau, P. M., Wang, Y., Cao, F., Li, M., Ruiter, J., Ciapaite, J., Kluijtmans, L. A. J. & 13 others, Willemsen, M. A. A. P., Jans, J. J., Ross, C. J., Wintjes, L. T., Rodenburg, R. J., Huigen, M. C. D. G., Jia, Z., Waterham, H. R., Wasserman, W. W., Wanders, R. J. A., Verhoeven-Duif, N. M., Zaki, M. S. & Wevers, R. A., 5 Sep 2019, In : American journal of human genetics. 105, 3, p. 534-548

Research output: Contribution to journalArticleAcademicpeer-review

Deciphering the potential involvement of PXMP2 and PEX11B in hydrogen peroxide permeation across the peroxisomal membrane reveals a role for PEX11B in protein sorting

Lismont, C., Koster, J., Provost, S., Baes, M., van Veldhoven, P. P., Waterham, H. R. & Fransen, M., 1 Oct 2019, In : Biochimica et Biophysica Acta. Biomembranes. 1861, 10, 182991.

Research output: Contribution to journalArticleAcademicpeer-review

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 others, Nguyen, 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 others, van Hasselt, P. M., Schoenmakers, M., Wijburg, F. A. & Visser, G., 1 May 2019, In : Journal of Inherited Metabolic Disease. 42, 3, p. 414-423 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Liver disease predominates in a mouse model for mild human Zellweger spectrum disorder

Berendse, K., Boek, M., Gijbels, M., van der Wel, N. N., Klouwer, F. C., van den Bergh-Weerman, M. A., Shinde, A. B., Ofman, R., Poll-The, B. T., Houten, S. M., Baes, M., Wanders, R. J. A. & Waterham, H. R., 1 Oct 2019, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1865, 10, p. 2774-2787

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Mutagenesis separates ATPase and thioesterase activities of the peroxisomal ABC transporter, Comatose

Carrier, D. J., van Roermund, C. W. T., Schaedler, T. A., Rong, H. L., IJlst, L., Wanders, R. J. A., Baldwin, S. A., Waterham, H. R., Theodoulou, F. L. & Baker, A., 1 Dec 2019, In : Scientific Reports. 9, 1, 10502.

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. 1-10 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

The cholic acid extension study in Zellweger spectrum disorders: Results and implications for therapy

Klouwer, F. C. C., Koot, B. G. P., Berendse, K., Kemper, E. M., Ferdinandusse, S., Koelfat, K. V. K., Lenicek, M., Vaz, F. M., Engelen, M., Jansen, P. L. M., Wanders, R. J. A., Waterham, H. R., Schaap, F. G. & Poll-The, B. T., 1 Mar 2019, In : Journal of Inherited Metabolic Disease. 42, 2, p. 303-312

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2018

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

Plasma lipidomics as a diagnostic tool for peroxisomal disorders

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. 489-498

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

The role of the clinician in the multi-omics era: are you ready?

van Karnebeek, C. D. M., Wortmann, S. B., Tarailo-Graovac, M., Langeveld, M., Ferreira, C. R., van de Kamp, J. M., Hollak, C. E., Wasserman, W. W., Waterham, H. R., Wevers, R. A., Haack, T. B., Wanders, R. J. A. & Boycott, K. M., 2018, In : Journal of Inherited Metabolic Disease. 41, 3, p. 571-582

Research output: Contribution to journalArticleAcademicpeer-review

Open Access