J. Ruiter

Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency

Frédéric M. Vaz, H. R. Scholte, J. Ruiter et al. · Human Genetics · 1999 · 66 citations

Genetics, Inherited Metabolic Disease, Novel Mutations +4

Neonatal screening for medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency in The Netherlands: The importance of enzyme analysis to ascertain true MCAD deficiency

Terry G. J. Derks, Theo Boer, Arend van Assen et al. · Journal of Inherited Metabolic Disease · 2008 · 58 citations

Differential inhibitory effect of long-chain acyl-CoA esters on succinate and glutamate transport into rat liver mitochondria and its possible implications for long-chain fatty acid oxidation defects

Fátima V. Ventura, J. Ruiter, Lodewijk IJlst et al. · Molecular Genetics and Metabolism · 2005 · 35 citations

Long-chain Acyl-coa Esters, Differential Inhibitory Effect, Oxysterol +10

Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency

Frédéric M. Vaz, H.R. Scholte, J. Ruiter et al. · Human Genetics · 1999 · 28 citations

Genetics, Inherited Metabolic Disease, Novel Mutations +4

Evidence for Impaired Gluconeogenesis in Very Long-chain Acyl-CoA Dehydrogenase-deficient Mice

Ute Spiekerkoetter, J. Ruiter, Chonan Tokunaga et al. · Hormone and Metabolic Research · 2006 · 22 citations

Metabolic Disorder, Genetics, Vlcad Deficiency +19