PhD M.S. Ebberink publications

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Publications PhD M.S. Ebberink

Position
MD-PhD
Main activities
Research
Specialisation
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.

Amsterdam UMC Research Institutes
AMC departments
All publications

2019

  • Ferdinandusse Sacha, te Brinke Heleen, Ruiter Jos P. N., Haasjes Janet, Oostheim Wendy, van Lenthe Henk, IJlst Lodewijk, Ebberink Merel S., Wanders Ronald J. A., Vaz Frédéric M., Waterham Hans R. A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency Human mutation 2019;40 (10):1899-1904 [PubMed]
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