Jos P.N. Ruiter

The enzymology of mitochondrial fatty acid beta‐oxidation and its application to follow‐up analysis of positive neonatal screening results

Ronald J. A. Wanders, Jos P.N. Ruiter, Lodewijk IJlst et al. · Journal of Inherited Metabolic Disease · 2010 · 205 citations · Full text

Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene.

Lodewijk IJlst, Jos P.N. Ruiter, J.M.N. Hoovers et al. · Journal of Clinical Investigation · 1996 · 163 citations · Full text

Mutant Protein, Genetics, Molecular Biology +18

Hepatic Carnitine Palmitoyltransferase I Deficiency Presenting as Maternal Illness in Pregnancy

A. Micheil Innes, L.E. Seargeant, K. Balachandra et al. · Pediatric Research · 2000 · 149 citations · Full text

Hepatology, Hepatitis, Gynecology +12

ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism

Heidi Peters, Nicole E. Buck, Ronald J. A. Wanders et al. · Brain · 2014 · 136 citations

Fatal Leigh Disease, Genetics, Molecular Biology +18

Mitochondrial long chain fatty acid β-oxidation in man and mouse

Malika Chegary, Heleen te Brinke, Jos P.N. Ruiter et al. · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · 2009 · 127 citations · Full text

Metabolic Syndrome, Oxysterol, Biochemistry +10