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Human Mutation|April 21, 2005
Identification of novel mutations in classical galactosemiaAnnet M Bosch, Lodewijk Ijlst, Wendy Oostheim, et al.The Biochemical Journal|November 13, 2004
Characterization of carnitine and fatty acid metabolism in the long-chain acyl-CoA dehydrogenase-deficient mouseNaomi van Vlies, Liqun Tian, Henk Overmars, et al.Metabolites|March 8, 2019
An UPLC-MS/MS Assay to Measure Glutathione as Marker for Oxidative Stress in Cultured CellsKatharina Herzog, Lodewijk IJlst, Arno G van Cruchten, et al.American Journal of Human Genetics|January 10, 2002
Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1Alison M Motley, Pedro Brites, Lisya Gerez, et al.Neurology|March 31, 2012
MRI as diagnostic tool in early-onset peroxisomal disordersM S van der Knaap, E Wassmer, N I Wolf, et al.Journal of Cellular Physiology|March 9, 2005
Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targetingJlenia Monfregola, Armando Cevenini, Antonio Terracciano, et al.Frontiers in Cell and Developmental Biology|April 19, 2021
Autophagy Inhibitors Do Not Restore Peroxisomal Functions in Cells With the Most Common Peroxisome Biogenesis DefectFemke C C Klouwer, Kim D Falkenberg, Rob Ofman, et al.American Journal of Medical Genetics. Part A|October 18, 2008
Carnitine-palmitoyltransferase 2 deficiency: novel mutations and relevance of newborn screeningSabine Illsinger, Thomas Lücke, Michael Peter, et al.Journal of Cell Science|August 19, 2004
The peroxisomal lumen in Saccharomyces cerevisiae is alkalineCarlo W T van Roermund, Mark de Jong, Lodewijk IJlst, et al.Journal of Hepatology|December 15, 2010
New insights on the mechanisms of valproate-induced hyperammonemia: inhibition of hepatic N-acetylglutamate synthase activity by valproyl-CoACátia C P Aires, Arno van Cruchten, Lodewijk Ijlst, et al.Pageof 48