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Analytical Biochemistry|February 22, 2001
Synthesis and intramitochondrial levels of valproyl-coenzyme A metabolitesM F Silva, J P Ruiter, L IJlst, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|April 27, 1999
Quantitative acylcarnitine profiling in fibroblasts using [U-13C] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defectsF V Ventura, C G Costa, E A Struys, et al.
European Journal of Pediatrics|December 10, 1997
Succinyl-CoA:acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literatureK E Niezen-Koning, R J Wanders, J P Ruiter, et al.
Analytical Biochemistry|August 1, 2017
Advances in methods for characterization of hepatic urea cycle enzymatic activity in HepaRG cells using UPLC-MS/MSM F Moedas, A A A Adam, M A Farelo, et al.
Brain : a Journal of Neurology|June 16, 2001
Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndromeM A Willemsen, L IJlst, P M Steijlen, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 16, 1998
Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiencyE G van Grunsven, E van Berkel, L Ijlst, et al.
Nature Genetics|November 5, 1997
Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase geneG A Jansen, R Ofman, S Ferdinandusse, et al.
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