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An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio
Vaz, F. M., van Lenthe, H., Vervaart, M. A. T., Stet, F. S., Klinkspoor, J. H., Vernon, H. J., Goorden, S. M. I., Houtkooper, R. H., Kulik, W. & Wanders, R. J. A., Jan 2022, In: Journal of Inherited Metabolic Disease. 45, 1, p. 29-37 9 p.Research output: Contribution to journal › Article › Academic › peer-review
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Metabolomics and lipidomics in Caenorhabditis elegans using a single-sample preparation
Molenaars, M., Schomakers, B. V., Elfrink, H. L., Gao, A. W., Vervaart, M. A. T., Pras-Raves, M. L., Luyf, A. C., Smith, R. L., Sterken, M. G., Kammenga, J. E., van Kampen, A. H. C., Janssens, G. E., Vaz, F. M., van Weeghel, M. & Houtkooper, R. H., 1 Apr 2021, In: Disease models & mechanisms. 14, 4, dmm.047746.Research output: Contribution to journal › Article › Academic › peer-review
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Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia
Deciphering Developmental Disorders Study, 1 Nov 2019, In: Brain. 142, 11, p. 3382-3397 16 p.Research output: Contribution to journal › Article › Academic › peer-review
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