Specialization
Molecular biology, metabolism, mouse model
Focus of research
Molecular biology and molecular genetics of inborn errors of metabolism with focus on inborn errors of isoprenoid/cholesterol biosynthesis and peroxisomal defects.
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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. 1899-1904Research output: Contribution to journal › Article* › Academic › peer-review
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