Clinical variability of isovaleric acidemia in a genetically homogeneous populationDERCKSEN, M; DURAN, M; IJLST, L et al.Journal of inherited metabolic disease. 2012, Vol 35, Num 6, pp 1021-1029, issn 0141-8955, 9 p.Article

High activity of fatty acid oxidation enzymes in human placenta: Implications for fetal-maternal diseaseOEY, N. A; DEN BOER, M. E. J; RUITER, J. P. N et al.Journal of inherited metabolic disease. 2003, Vol 26, Num 4, pp 385-392, issn 0141-8955, 8 p.Article

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year-old manOLPIN, S. E; POLLITT, R. J; MCMENAMIN, J et al.Journal of inherited metabolic disease. 2002, Vol 25, Num 6, pp 477-482, issn 0141-8955, 6 p.Article

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency : A new method to identify the G1528C mutation in gneomic DNA showing its high frequency (90%) and identification of a new mutation (T2198C)IJLST, L; RUITER, J. P. N; VREIJLING, J et al.Journal of inherited metabolic disease. 1996, Vol 19, Num 2, pp 165-168, issn 0141-8955Article

Studies on mitochondrial oxidative phosphorylation in permeabilized human skin fibroblasts : applicattion to mitochondrial encephalomyopathiesWANDERS, R. J. A; RUITER, J. P. N; WIJBURG, F. A et al.Biochimica et biophysica acta. Molecular basis of disease. 1993, Vol 1181, Num 3, pp 219-222, issn 0925-4439Article

Valproate inhibits the mitochondrial pyruvate-driven oxidative phosphorylation in vitroSILVA, M. F. B; RUITER, J. P. N; IJLST, L et al.Journal of inherited metabolic disease. 1997, Vol 20, Num 3, pp 397-400, issn 0141-8955Conference Paper

Inhibitory effect of 3-hydroxyacyl-CoAs and other long-chain fatty acid β-oxidation intermediates on mitochondrial oxidative phosphorylationVENTURA, F. V; RUITER, J. P. N; IJLST, L et al.Journal of inherited metabolic disease. 1996, Vol 19, Num 2, pp 161-164, issn 0141-8955Article

Prenatal diagnosis of systemic disorders of the respiratory chain in cultured chorionic villus fibroblasts by study of ATP-synthesis in digitonin-permeabilized cellsWANDERS, R. J. A; RUITER, J. P. N; WIJBURG, F. A et al.Journal of inherited metabolic disease. 1996, Vol 19, Num 2, pp 133-136, issn 0141-8955Article

Valproic acid metabolism and its effects on mitochondrial fatty acid oxidation : A reviewSILVA, M. F. B; AIRES, C. C. P; LUIS, P. B. M et al.Journal of inherited metabolic disease. 2008, Vol 31, Num 2, pp 205-216, issn 0141-8955, 12 p.Conference Paper

Primary plasmalemmal carnitine transporter defect manifested with dicarboxylic aciduria and impaired fatty acid oxidationTANG, N. L. S; HUI, J; HJELM, N. M et al.Journal of inherited metabolic disease. 1998, Vol 21, Num 4, pp 423-425, issn 0141-8955Article

Mitochondrial oxidative phosphorylation in digitonin-permeabilized chorionic villus fibroblasts : a new method with potential for prenatal diagnosisWANDERS, R. J. A; RUITER, J. P. N; WIJBURG, F. A et al.Journal of inherited metabolic disease. 1994, Vol 17, Num 3, pp 304-306, issn 0141-8955Conference Paper

Genetic Basis for Correction of Very-Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency by Bezafibrate in Patient Fibroblasts : Toward a Genotype-Based TherapyGOBIN-LIMBALLE, S; DJOUADI, F; MCANDREW, R et al.American journal of human genetics. 2007, Vol 81, Num 6, pp 1133-1143, issn 0002-9297, 11 p.Article

Lactic acidosis in long-chain fatty acid β-oxidation disordersVENTURA, F. V; RUITER, J. P. N; IJLST, L et al.Journal of inherited metabolic disease. 1998, Vol 21, Num 6, pp 645-654, issn 0141-8955Article

Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Identification of two new mutationsIJLST, L; OOSTHEIM, W; RUITER, J. P. N et al.Journal of inherited metabolic disease. 1997, Vol 20, Num 3, pp 420-422, issn 0141-8955Conference Paper

Measurement of peroxisomal fatty acid β-oxidation in cultured human skin fibroblastsWANDERS, R. J. A; DENIS, S; RUITER, J. P. N et al.Journal of inherited metabolic disease. 1995, Vol 18, pp 113-124, issn 0141-8955, SUP1Article

Unusual clinical presentation in two boys with cytochrome c oxidase deficiencyHREBICEK, M; ZEMAN, J; PETRAK, B et al.Journal of inherited metabolic disease. 1992, Vol 15, Num 3, pp 320-322, issn 0141-8955Conference Paper

Bezafibrate increases very-long-chain acyl-CoA dehydrogenase protein and mRNA expression in deficient fibroblasts and is a potential therapy for fatty acid oxidation disordersDJOUADI, F; AUBEY, F; SCHLEMMER, D et al.Human molecular genetics (Print). 2005, Vol 14, Num 18, pp 2695-2703, issn 0964-6906, 9 p.Article

A new case of succinyl-CoA:acetoacetate transferase deficiency : Favourable course despite very low residual activityBARIC, I; SARNAVKA, V; FUMIC, K et al.Journal of inherited metabolic disease. 2001, Vol 24, Num 1, pp 81-82, issn 0141-8955Article

Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancyINNES, A. M; SEARGEANT, L. E; BALACHANDRA, K et al.Pediatric research. 2000, Vol 47, Num 1, pp 43-45, issn 0031-3998Article

Succinyl-CoA :acetoacetate transferase deficiency : identification of a new patient with a neonatal onset and review of the literatureNIEZEN-KONING, K. E; WANDERS, R. J. A; RUITER, J. P. N et al.European journal of pediatrics. 1997, Vol 156, Num 11, pp 870-873, issn 0340-6199Article

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency : high frequency of the G1528C mutation with no apparent correlation with the clinical phenotypeIJLST, L; USKIKUBO, S; KAMIJO, T et al.Journal of inherited metabolic disease. 1995, Vol 18, Num 2, pp 241-244, issn 0141-8955Article

Differentiation and proliferation of respiration-deficient human myoblastsHERZBERG, N. H; ZWART, R; WOLTERMAN, R. A et al.Biochimica et biophysica acta. Molecular basis of disease. 1993, Vol 1181, Num 1, pp 63-67, issn 0925-4439Article