ML Pras-Raves

20182020

Research output per year

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Research Output

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Article
2020

Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome

Staps, P., Rizzo, W. B., Vaz, F. M., Bugiani, M., Giera, M., Heijs, B., van Kampen, A. H. C., Pras-Raves, M. L., Breur, M., Groen, A., Ferdinandusse, S., van der Graaf, M., Van Goethem, G., Lammens, M., Wevers, R. A. & Willemsen, M. A. A. P., 1 Jan 2020, (Accepted/In press) In : Journal of Inherited Metabolic Disease.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
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 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
2018

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