Back to matchesWe found a matchYour institution may have access to this item. Find your institution then sign in to continue.TitleA mutation creating an upstream translation initiation codon in SLC22A5 5′UTR is a frequent cause of primary carnitine deficiency.AuthorsFerdinandusse, Sacha; te Brinke, Heleen; Ruiter, Jos P.N.; Haasjes, Janet; Oostheim, Wendy; Lenthe, Henk; IJlst, Lodewijk; Ebberink, Merel S.; Wanders, Ronald J.A.; Vaz, Frédéric M.; Waterham, Hans R.PublicationHuman Mutation, 2019, Vol 40, Issue 10, p1899ISSN1059-7794Publication typeArticleDOI10.1002/humu.23839