Jos P.N. Ruiter

Overview

Best Publications

• Valproic acid metabolism and its effects on mitochondrial fatty acid oxidation: A review

  M. F. B. Silva;C. C. P. Aires;P. B. M. Luis;J. P. N. Ruiter

  458
  Citations

• 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;Hans R. Waterham

  225
  Citations

• 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene

  Rob Ofman;Jos P. N. Ruiter;Marike Feenstra;Marinus Duran

  196
  Citations

• Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy.

  A M Innes;L E Seargeant;K Balachandra;C R Roe

  177
  Citations

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

  Malika Chegary;Heleen te Brinke;Jos P.N. Ruiter;Frits A. Wijburg

  163
  Citations

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

  Heidi Peters;Nicole Buck;Ronald Wanders;Jos Ruiter

  153
  Citations

• Progressive Infantile Neurodegeneration Caused by 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency: A Novel Inborn Error of Branched-Chain Fatty Acid and Isoleucine Metabolism

  Johannes Zschocke;Jos P N Ruiter;Jochen Brand;Martin Lindner

  150
  Citations

• Bezafibrate increases very-long-chain acyl-CoA dehydrogenase protein and mRNA expression in deficient fibroblasts and is a potential therapy for fatty acid oxidation disorders

  F. Djouadi;F. Aubey;D. Schlemmer;J.P.N. Ruiter

  133
  Citations

• Measurement of peroxisomal fatty acid β‐oxidation in cultured human skin fibroblasts

  R. J. A. Wanders;S. Denis;J. P. N. Ruiter;R. B. H. Schutgens

  133
  Citations

• Quantitative acylcarnitine profiling in fibroblasts using [U-13C] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects.

  Fátima V. Ventura;Catarina G. Costa;Catarina G. Costa;Edward A. Struys;Jos Ruiter

  118
  Citations

• Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration

  Ference J. Loupatty;Peter T. Clayton;Jos P.N. Ruiter;Rob Ofman

  105
  Citations

• Isolated 2-Methylbutyrylglycinuria Caused by Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Identification of a New Enzyme Defect, Resolution of Its Molecular Basis, and Evidence for Distinct Acyl-CoA Dehydrogenases in Isoleucine And Valine Metabolism

  Brage Storstein Andresen;Brage Storstein Andresen;Ernst Christensen;Thomas J. Corydon;Peter Bross

  104
  Citations

• Monocarboxylate transporter 1 deficiency and ketone utilization.

  Peter M. van Hasselt;Sacha Ferdinandusse;Glen R. Monroe;Jos P. N. Ruiter

  104
  Citations

• Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathy

  Cornélie M. Westermann;L. Dorland;Dominique Votion;M. G. M. de Sain-van der Velden

  101
  Citations

• 3-Methylglutaconic Aciduria Type I Is Caused by Mutations in AUH

  Lodewijk IJlst;Ference J. Loupatty;Jos P.N. Ruiter;Marinus Duran

  99
  Citations

• Genetic Basis for Correction of Very-Long-Chain Acyl–Coenzyme A Dehydrogenase Deficiency by Bezafibrate in Patient Fibroblasts: Toward a Genotype-Based Therapy

  S. Gobin‐Limballe;F. Djouadi;F. Aubey;S. Olpin

  98
  Citations

• Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy.

  Johan L K Van Hove;Margarita S Saenz;Janet A Thomas;Renata C Gallagher

  96
  Citations

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

  F.M. Vaz;H.R. Scholte;J. Ruiter;L.M. Hussaarts-Odijk

  94
  Citations

• Characterization of D-3-hydroxybutyrylcarnitine (ketocarnitine): an identified ketosis-induced metabolite.

  Maarten R. Soeters;Mireille J. Serlie;Hans P. Sauerwein;Marinus Duran

  93
  Citations

• Differentiation and proliferation of respiration-deficient human myoblasts.

  Nicole H. Herzberg;Rob Zwart;Ruud A. Wolterman;Jos P.N. Ruiter

  93
  Citations