R. Wanders

发表

Subcellular localization and physiological role of alpha-methylacyl-CoA racemase.

S. Ferdinandusse, S. Denis, L. Ijlst, 2000, Journal of lipid research.

R. Wanders, J. T. ten Cate, R. Schutgens, 1987, Blood.

Rapid diagnosis of organic acidemias and fatty-acid oxidation defects by quantitative electrospray tandem-MS acyl-carnitine analysis in plasma.

P. Vreken, R. Wanders, A. V. Van Gennip, 1999, Advances in experimental medicine and biology.

Ether lipid synthesis and its deficiency in peroxisomal disorders.

R. Wanders, R. Schutgens, H. van den Bosch, 1993, Biochimie.

High prevalence of short-chain acyl-CoA dehydrogenase deficiency in the Netherlands, but no association with epilepsy of unknown origin in childhood.

J. H. van der Lee, H. Waterham, R. Wanders, 2011, Neuropediatrics.

Studies on mitochondrial oxidative phosphorylation in permeabilized human skin fibroblasts: application to mitochondrial encephalomyopathies.

R. Wanders, J. Ruiter, F. Wijburg, 1993, Biochimica et biophysica acta.

Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy.

U. Dillmann, S. Ferdinandusse, S. Denis, 2006, American journal of human genetics.

High tolerance for oral galactose in classical galactosaemia: dietary implications

R. Wanders, F. Wijburg, A. Bosch, 2004, Archives of Disease in Childhood.

A phytol-enriched diet induces changes in fatty acid metabolism in mice both via PPARalpha-dependent and -independent pathways.

S. Ferdinandusse, S. Denis, R. Wanders, 2005, Journal of lipid research.

SUDDEN INFANT DEATH AND LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE

R. Wanders, M. Durán, L. Ijlst, 1989, The Lancet.

Identification of the peroxisomal beta-oxidation enzymes involved in the biosynthesis of docosahexaenoic acid.

S. Ferdinandusse, S. Denis, R. Wanders, 2001, Journal of lipid research.

Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation.

R. Wanders, J. Ibdah, M. Bennett, 1998, The Journal of clinical investigation.

Rapid analysis of conjugated bile acids in plasma using electrospray tandem mass spectrometry: Application for selective screening of peroxisomal disorders

P. Vreken, R. Wanders, A. E. V. van Lint, 1999, Journal of Inherited Metabolic Disease.

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.

R. Wanders, L. Ijlst, J. Ruiter, 1996, The Journal of clinical investigation.

Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency (ch.128)

R. Wanders, J. Johnson, 2001 .

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A new method to identify the G1528C mutation in genomic DNA showing its high frequency (≈90%) and identification of a new mutation (T2198C)

R. Wanders, L. Ijlst, J. Ruiter, 1996, Journal of Inherited Metabolic Disease.

Rapid stable isotope dilution analysis of very-long-chain fatty acids, pristanic acid and phytanic acid using gas chromatography-electron impact mass spectrometry.

P. Vreken, R. Wanders, A. E. V. van Lint, 1998, Journal of chromatography. B, Biomedical sciences and applications.

The Inflammatory Response in Acyl-CoA Oxidase 1 Deficiency (Pseudoneonatal Adrenoleukodystrophy)

H. Waterham, R. Wanders, G. Lizard, 2012, Endocrinology.

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.

I. T. de Almeida, R. Wanders, L. Ijlst, 2005, Molecular genetics and metabolism.

Inhibition of oxidative phosphorylation by palmitoyl-CoA in digitonin permeabilized fibroblasts: implications for long-chain fatty acid beta-oxidation disorders.

R. Wanders, L. Ijlst, I. T. Almeida, 1995, Biochimica et biophysica acta.

Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein.

R. Wanders, R. Wanders, T. Hashimoto, 1994, Biochimica et biophysica acta.

Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidation.

A. Munnich, R. Wanders, D. Rabier, 1992, Biochemical and biophysical research communications.

Carnitine‐acylcarnitine translocase deficiency: case report and review of the literature

R. Wanders, M. Rubio-Gozalbo, H. Waterham, 2003, Acta paediatrica.

3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment

R. Wanders, M. Durán, D. Ketting, 2005, European Journal of Pediatrics.

Long-chain 3-hydroxyacyl-CoA dehydrogenase in leukocytes and chorionic villus fibroblasts: Potential for pre- and postnatal diagnosis

R. Wanders, L. Ijlst, 1992, Journal of Inherited Metabolic Disease.

Lactic acidosis in long-chain fatty acid β-oxidation disorders

R. Wanders, L. Ijlst, J. Ruiter, 1998, Journal of Inherited Metabolic Disease.

DNA-based prenatal diagnosis for very-long- chain acyl-CoA dehydrogenase deficiency

L. D. Schroeder, L. Bolund, R. Wanders, 1999, Journal of Inherited Metabolic Disease.

A simple, straightforward assay for long-chain 3-hydroxyacyl-CoA dehydrogenase based on the use ofN-ethylmaleimide: Potential for pre- and postnatal diagnosis

R. Wanders, L. Ijlst, 1993, Journal of Inherited Metabolic Disease.

Inhibitory effect of 3-hydroxyacyl-CoAs and other long-chain fatty acidβ-oxidation intermediates on mitochondrial oxidative phosphorylation

R. Wanders, L. Ijlst, J. Ruiter, 1996, Journal of Inherited Metabolic Disease.

Plasma analysis of di- and trihydroxycholestanoic acid diastereoisomers in peroxisomal alpha-methylacyl-CoA racemase deficiency.

P. Vreken, S. Ferdinandusse, S. Denis, 2001, Journal of lipid research.

Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders

R. Wanders, H R Waterham, R J A Wanders, 2004, Clinical genetics.

Identification of 2-enoyl coenzyme A hydratase and NADP(+)-dependent 3-hydroxyacyl-CoA dehydrogenase activity in glycosomes of procyclic Trypanosoma brucei.

F. Opperdoes, E. Wiemer, R. Wanders, 1996, Molecular and biochemical parasitology.

Pitfall in metabolic screening in a patient with fatal peroxisomal beta-oxidation defect.

S. Ferdinandusse, H. Waterham, R. Wanders, 2006, Neuropediatrics.

Molecular cloning and expression of human L-pipecolate oxidase.

R. Wanders, L. Ijlst, W. Oostheim, 2000, Biochemical and biophysical research communications.

Long‐chain 3‐hydroxyacylCoA dehydrogenase deficiency: a new case presenting with liver dysfunction, cholestasis and fibrosis

R. Wanders, D. Rabier, C. Roe, 2002, Acta paediatrica.

Impaired plasmalogen metabolism in infantile Refsum's disease

R. Wanders, R. Schutgens, B. Poll-The, 1986, European Journal of Pediatrics.

Bile acids in peroxisomal disorders

R. Wanders, B. Poll-The, J. Saudubray, 1987, European journal of clinical investigation.

Cell and tissue heterogeneity in peroxisomal patients

T. Hashimoto, R. Wanders, H. Mandel, 1995 .

Complementation analysis of fibroblasts from peroxisomal fatty acid oxidation deficient patients shows high frequency of bifunctional enzyme deficiency plus intragenic complementation: unequivocal evidence for differential defects in the same enzyme protein.

S. Denis, R. Wanders, C. V. van Roermund, 1997, Biochemical and biophysical research communications.

Zellweger-like phenotype in two siblings: A defect in peroxisomal β-oxidation with elevated very long-chain fatty acids but normal bile acids

R. Wanders, H. Mandel, M. Berant, 1992, Journal of Inherited Metabolic Disease.

Infantile Refsum disease: neonatal cholestatic jaundice presentation of a peroxisomal disorder.

R. Wanders, H. Mandel, M. Berant, 1995, Journal of pediatric gastroenterology and nutrition.

Defective peroxisomal catabolism of branched fatty acyl coenzyme A in mice lacking the sterol carrier protein-2/sterol carrier protein-x gene function.

F. Wouters, K. Wirtz, S. Denis, 1998, Genes & development.

Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder.

S. Ferdinandusse, H. Waterham, R. Wanders, 2016, JIMD reports.

Molecular cloning and expression of human carnitine octanoyltransferase: evidence for its role in the peroxisomal beta-oxidation of branched-chain fatty acids.

S. Ferdinandusse, S. Denis, L. Ijlst, 1999, Biochemical and biophysical research communications.

Plasmalogen phospholipids are involved in HDL-mediated cholesterol efflux: insights from investigations with plasmalogen-deficient cells.

P. Vreken, R. Wanders, H. Mandel, 1998, Biochemical and biophysical research communications.

Clinical variability of isovaleric acidemia in a genetically homogeneous population

H. Waterham, R. Wanders, R. Wanders, 2012, Journal of Inherited Metabolic Disease.

Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects

P. Vreken, R. Wanders, A. E. V. van Lint, 1999, Journal of Inherited Metabolic Disease.

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

R. Wanders, I. Wijnberg, W. Spliet, 2008, Neuromuscular Disorders.

Prenatal diagnosis of systemic disorders of the respiratory chain in cultured amniocytes and chorionic villus fibroblasts by studying the formation of lactate and pyruvate from glucose

R. Wanders, J. Ruiter, N. Feller, 1992, Journal of Inherited Metabolic Disease.

Fatty acid beta-oxidation in leukocytes from control subjects and medium-chain acyl-CoA dehydrogenase deficient patients.

R. Wanders, L. Ijlst, 1992, Biochimica et biophysica acta.

Octanoate and palmitateβ-oxidation in human leukocytes: Implications for the rapid diagnosis of fatty acidβ-oxidation disorders

L. Ijlst, R. Wanders, H. Przyrembel, 1991, Journal of Inherited Metabolic Disease.

Stereochemistry of the peroxisomal branched-chain fatty acid alpha- and beta-oxidation systems in patients suffering from different peroxisomal disorders.

P. Vreken, S. Ferdinandusse, G. Dacremont, 2002, Journal of lipid research.

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Identification of a new inborn error of mitochondrial fatty acidβ-oxidation

R. Wanders, L. Ijlst, C. Jakobs, 1990, Journal of Inherited Metabolic Disease.

Lactic acidosis in long-chain fatty acid beta-oxidation disorders.

I. T. de Almeida, R. Wanders, L. Ijlst, 1998, Journal of inherited metabolic disease.

Mevalonate kinase deficiency in a child with periodic fever and without hyperimmunoglobulinaemia D

H. Waterham, R. Wanders, P. Picco, 2001, Journal of Inherited Metabolic Disease.

Restoration of NADH-oxidation in complex I and complex III deficient fibroblasts by menadione

R. Wanders, N. Feller, C. D. Groot, 1991, Journal of Inherited Metabolic Disease.

Menadione partially restores NADH-oxidation and ATP-synthesis in complex I deficient fibroblasts.

R. Wanders, N. Feller, C. J. de Groot, 1990, Biochemistry international.

Detection of respiratory chain dysfunction by measuring lactate and pyruvate production in cultured fibroblasts

R. Wanders, R. Sengers, N. Feller, 1990, Journal of Inherited Metabolic Disease.

Respiratory chain function in Leber's hereditary optic neuropathy: Lack of correlation with clinical disease

R. Wanders, F. Wijburg, E. Bleeker-Wagemakers, 1993, Journal of Inherited Metabolic Disease.

Studies on the formation of lactate and pyruvate from glucose in cultured skin fibroblasts: implications for detection of respiratory chain defects.

R. Wanders, N. Feller, F. Wijburg, 1989, Biochemistry international.

D-Hydroxyacyl-CoA Dehydrogenase Deficiency

S. Denis, R. Wanders, E. V. Grunsven, 2002 .

Identification of fatty acid oxidation disorder patients with lowered acyl‐CoA thioesterase activity in human skin fibroblasts

R. Wanders, L. Ijlst, J. Ruiter, 2005, European journal of clinical investigation.

Peroxisomal fatty acid oxidation disorders and 58 kDa sterol carrier protein X (SCPx). Activity measurements in liver and fibroblasts using a newly developed method.

S. Ferdinandusse, S. Denis, G. Dacremont, 2000, Journal of lipid research.

A phytol-enriched diet induces changes in fatty acid metabolism in mice both via PPARα-dependent and -independent pathways Published, JLR Papers in Press, January 16, 2005. DOI 10.1194/jlr.M400337-JLR200

S. Ferdinandusse, S. Denis, R. Wanders, 2005, Journal of Lipid Research.

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype

R. Wanders, T. Hashimoto, L. Ijlst, 1995, Journal of Inherited Metabolic Disease.

Unusual clinical presentation in two boys with cytochrome c oxidase deficiency.

R. Wanders, J. Zeman, J. Ruiter, 1992, Journal of inherited metabolic disease.

A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy).

R. Wanders, R. Wanders, B. Poll-The, 1988, American journal of human genetics.

Pre‐eclampsia in a woman whose child suffered from lethal carnitine‐acylcarnitine translocase deficiency

R. Wanders, W. Geven, A. Timmer, 2007, BJOG : an international journal of obstetrics and gynaecology.

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

R. Wanders, R. Wanders, E. Mayatepek, 2006, Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme.

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

M. Duran, R. Wanders, R. Wanders, 2008, Journal of Inherited Metabolic Disease.