Wanders, Ronald J.A.

Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency

Ferdinandusse, S., Denis, S., Hogenhout, E. M., Koster, J., van Roermund, C. W. T., IJlst, L., Moser, A. B., Wanders, R. J. A., & Waterham, H. R. (2007) · Human Mutation

Metabolism and Genetic DisordersNeurological diseases and metabolism

Cited by 156

Peroxisomal d -hydroxyacyl-CoA dehydrogenase deficiency: Resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency

van Grunsven, E. G., van Berkel, E., Ijlst, L., Vreken, P., de Klerk, J. B. C., Adamski, J., Lemonde, H., Clayton, P. T., Cuebas, D. A., & Wanders, R. J. A. (1998) · Proceedings of the National Academy of Sciences

Metabolism and Genetic DisordersNeurological diseases and metabolism

Cited by 152

Analysis of very long-chain fatty acids using electrospray ionization mass spectrometry

Valianpour, F., Selhorst, J. J. M., van Lint, L. E. M., van Gennip, A. H., Wanders, R. J. A., & Kemp, S. (2003) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersMass Spectrometry Techniques and Applications

Cited by 150

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

Ferdinandusse, S., Kostopoulos, P., Denis, S., Rusch, H., Overmars, H., Dillmann, U., Reith, W., Haas, D., Wanders, R. J. A., Duran, M., et al. (2006) · The American Journal of Human Genetics

Metabolism and Genetic DisordersHereditary Neurological Disorders

Cited by 145

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

Celestino-Soper, P. B. S., Violante, S., Crawford, E. L., Luo, R., Lionel, A. C., Delaby, E., Cai, G., Sadikovic, B., Lee, K., Lo, C., et al. (2012) · Proceedings of the National Academy of Sciences

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 139

A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3

Ferdinandusse, S., Jimenez-Sanchez, G., Koster, J., Denis, S., Van Roermund, C. W., Silva-Zolezzi, I., Moser, A. B., Visser, W. F., Gulluoglu, M., Durmaz, O., et al. (2015) · Human Molecular Genetics

Metabolism and Genetic DisordersDrug Transport and Resistance Mechanisms

Cited by 134

l-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1

Topçu, M., Jobard, F., Halliez, S., Coskun, T., Yalçinkayal, C., Gerceker, F. O., Wanders, R. J. A., Prud'homme, J.-F., Lathrop, M., Özguc, M., et al. (2004) · Human Molecular Genetics

Metabolism and Genetic DisordersNeurological diseases and metabolism

Cited by 133

Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with "Lorenzo's oil"

van Geel, B. M., Assies, J., Haverkort, E. B., Koelman, J. H. T. M., Verbeeten, B., Wanders, R. J. A., & Barth, P. G. (1999) · Journal of Neurology, Neurosurgery & Psychiatry

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 131

Differential substrate specificities of human ABCD1 and ABCD2 in peroxisomal fatty acid β-oxidation

van Roermund, C. W. T., Visser, W. F., IJlst, L., Waterham, H. R., & Wanders, R. J. A. (2011) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids

Metabolism and Genetic DisordersDrug Transport and Resistance Mechanisms

Cited by 128

Lipid metabolism in peroxisomes in relation to human disease

Wanders, R. J. A., & Tager, J. M. (1998) · Molecular Aspects of Medicine

Metabolism and Genetic DisordersLipid metabolism and biosynthesis

Cited by 122

ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism

Ferdinandusse, S., Falkenberg, K. D., Koster, J., Mooyer, P. A., Jones, R., van Roermund, C. W. T., Pizzino, A., Schrader, M., Wanders, R. J. A., Vanderver, A., et al. (2017) · Journal of Medical Genetics

Metabolism and Genetic DisordersNeurological diseases and metabolism

Cited by 120

Transport of Activated Fatty Acids by the Peroxisomal ATP‐binding‐cassette Transporter Pxa2 in a Semi‐Intact Yeast Cell System

Verleur, N., Hettema, E. H., Van Roermund, C. W. T., Tabak, H. F., & Wanders, R. J. A. (1997) · European Journal of Biochemistry

Metabolism and Genetic DisordersLipid metabolism and biosynthesis

Cited by 117

Biochemical aspects of X-linked adrenoleukodystrophy

Kemp, S., & Wanders, R. (2010) · Brain Pathology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 116

Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance

Kemp, S., Theodoulou, F. L., & Wanders, R. J. (2011) · British Journal of Pharmacology

Metabolism and Genetic DisordersDrug Transport and Resistance Mechanisms

Cited by 115

Plasmalogens participate in very-long-chain fatty acid-induced pathology

Brites, P., Mooyer, P. A. W., el Mrabet, L., Waterham, H. R., & Wanders, R. J. A. (2008) · Brain

Metabolism and Genetic DisordersNeurological diseases and metabolism

Cited by 112

Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1

Motley, A. M., Brites, P., Gerez, L., Hogenhout, E., Haasjes, J., Benne, R., Tabak, H. F., Wanders, R. J. A., & Waterham, H. R. (2002) · The American Journal of Human Genetics

Metabolism and Genetic DisordersGlycogen Storage Diseases and Myoclonus

Cited by 107

A key role for the peroxisomal ABCD2 transporter in fatty acid homeostasis

Fourcade, S., Ruiz, M., Camps, C., Schlüter, A., Houten, S. M., Mooyer, P. A. W., Pàmpols, T., Dacremont, G., Wanders, R. J. A., Giròs, M., et al. (2009) · American Journal of Physiology-Endocrinology and Metabolism

Metabolism and Genetic DisordersLipid metabolism and biosynthesis

Cited by 104

Gas chromatography/mass spectrometry analysis of very long chain fatty acids, docosahexaenoic acid, phytanic acid and plasmalogen for the screening of peroxisomal disorders

Takemoto, Y., Suzuki, Y., Horibe, R., Shimozawa, N., Wanders, R. J. A., & Kondo, N. (2003) · Brain and Development

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 101

A role for the human peroxisomal half-transporter ABCD3 in the oxidation of dicarboxylic acids

van Roermund, C. W. T., IJlst, L., Wagemans, T., Wanders, R. J. A., & Waterham, H. R. (2014) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids

Metabolism and Genetic DisordersPeroxisome Proliferator-Activated Receptors

Cited by 101

PPARα-activation results in enhanced carnitine biosynthesis and OCTN2-mediated hepatic carnitine accumulation

van Vlies, N., Ferdinandusse, S., Turkenburg, M., Wanders, R. J. A., & Vaz, F. M. (2007) · Biochimica et Biophysica Acta (BBA) - Bioenergetics

Peroxisome Proliferator-Activated ReceptorsMetabolism and Genetic Disorders

Cited by 98

MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata

Bams-Mengerink, A. M., Majoie, C. B. L. M., Duran, M., Wanders, R. J. A., Van Hove, J., Scheurer, C. D., Barth, P. G., & Poll-The, B. T. (2006) · Neurology

Metabolism and Genetic DisordersFetal and Pediatric Neurological Disorders

Cited by 97

Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy

Kemp, S., Valianpour, F., Denis, S., Ofman, R., Sanders, R.-J., Mooyer, P., Barth, P. G., & Wanders, R. J. A. (2005) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 97

Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype–phenotype analysis

Ferdinandusse, S., Ylianttila, M. S., Gloerich, J., Koski, M. K., Oostheim, W., Waterham, H. R., Hiltunen, J. K., Wanders, R. J. A., & Glumoff, T. (2006) · The American Journal of Human Genetics

Metabolism and Genetic DisordersGenomics and Rare Diseases

Cited by 96

Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene

Ebberink, M. S., Csanyi, B., Chong, W. K., Denis, S., Sharp, P., Mooijer, P. A. W., Dekker, C. J. M., Spooner, C., Ngu, L. H., De Sousa, C., et al. (2010) · Journal of Medical Genetics

Metabolism and Genetic DisordersHereditary Neurological Disorders

Cited by 94