ML Pras-Raves

20182019
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Research Output 2018 2019

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

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