HR Waterham

20182019

Research output per year

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Research Output

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