Wevers, Ron A.
Radboud University Medical Center
12 papers on CoChatORCID 0000-0003-2278-9746
Most cited papers
- Verified
Adipose tissue thickness affects in vivo quantitative near-IR spectroscopy in human skeletal muscle
VAN BEEKVELT, M. C. P., BORGHUIS, M. S., VAN ENGELEN, B. G. M., WEVERS, R. A., & COLIER, W. N. J. M. (2001) · Clinical Science
Optical Imaging and Spectroscopy TechniquesCardiovascular and exercise physiology
Cited by 369
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SRD5A3 Is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder
Cantagrel, V., Lefeber, D. J., Ng, B. G., Guan, Z., Silhavy, J. L., Bielas, S. L., Lehle, L., Hombauer, H., Adamowicz, M., Swiezewska, E., et al. (2010) · Cell
Glycosylation and Glycoproteins ResearchGlycogen Storage Diseases and Myoclonus
Cited by 309
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Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene
Waterham, H. R., Wijburg, F. A., Hennekam, R. C. M., Vreken, P., Poll-The, B. T., Dorland, L., Duran, M., Jira, P. E., Smeitink, J. A. M., Wevers, R. A., et al. (1998) · The American Journal of Human Genetics
Metabolism and Genetic DisordersCholesterol and Lipid Metabolism
Cited by 296
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Exome Sequencing and the Management of Neurometabolic Disorders
Tarailo-Graovac, M., Shyr, C., Ross, C. J., Horvath, G. A., Salvarinova, R., Ye, X. C., Zhang, L.-H., Bhavsar, A. P., Lee, J. J. Y., Drögemöller, B. I., et al. (2016) · New England Journal of Medicine
Metabolism and Genetic DisordersGenomics and Rare Diseases
Cited by 281
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SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness
Carrozzo, R., Dionisi-Vici, C., Steuerwald, U., Lucioli, S., Deodato, F., Di Giandomenico, S., Bertini, E., Franke, B., Kluijtmans, L. A. J., Meschini, M. C., et al. (2007) · Brain
Metabolism and Genetic DisordersMitochondrial Function and Pathology
Cited by 208
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SUCNR1-mediated chemotaxis of macrophages aggravates obesity-induced inflammation and diabetes
van Diepen, J. A., Robben, J. H., Hooiveld, G. J., Carmone, C., Alsady, M., Boutens, L., Bekkenkamp-Grovenstein, M., Hijmans, A., Engelke, U. F. H., Wevers, R. A., et al. (2017) · Diabetologia
Adipokines, Inflammation, and Metabolic DiseasesAdipose Tissue and Metabolism
Cited by 187
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NANS-mediated synthesis of sialic acid is required for brain and skeletal development
van Karnebeek, C. D. M., Bonafé, L., Wen, X.-Y., Tarailo-Graovac, M., Balzano, S., Royer-Bertrand, B., Ashikov, A., Garavelli, L., Mammi, I., Turolla, L., et al. (2016) · Nature Genetics
Glycosylation and Glycoproteins ResearchLysosomal Storage Disorders Research
Cited by 164
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Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis
Verrips, A., van Engelen, B. G. M., Wevers, R. A., van Geel, B. M., Cruysberg, J. R. M., van den Heuvel, L. P. W. J., Keyser, A., & Gabreëls, F. J. M. (2000) · Archives of Neurology
Metabolism and Genetic DisordersLysosomal Storage Disorders Research
Cited by 104
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Molecular Characterization of Testicular Adrenal Rest Tumors in Congenital Adrenal Hyperplasia: Lesions With Both Adrenocortical and Leydig Cell Features
Smeets, E. E. J. W., Span, P. N., van Herwaarden, A. E., Wevers, R. A., Hermus, A. R. M. M., Sweep, F. C. G. J., & Claahsen-van der Grinten, H. L. (2015) · The Journal of Clinical Endocrinology & Metabolism
Sexual Differentiation and DisordersAdrenal Hormones and Disorders
Cited by 70
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The GC-MS metabolomics signature in patients with fibromyalgia syndrome directs to dysbiosis as an aspect contributing factor of FMS pathophysiology
Malatji, B. G., Mason, S., Mienie, L. J., Wevers, R. A., Meyer, H., van Reenen, M., & Reinecke, C. J. (2019) · Metabolomics
Fibromyalgia and Chronic Fatigue Syndrome ResearchMetabolomics and Mass Spectrometry Studies
Cited by 48
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Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis
Coman, D., Vissers, L. E. L. M., Riley, L. G., Kwint, M. P., Hauck, R., Koster, J., Geuer, S., Hopkins, S., Hallinan, B., Sweetman, L., et al. (2018) · The American Journal of Human Genetics
Cholesterol and Lipid MetabolismMetabolism and Genetic Disorders
Cited by 42
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Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective
Peters, T. M. A., Engelke, U. F. H., de Boer, S., Reintjes, J. T. G., Roullet, J., Broekman, S., de Vrieze, E., van Wijk, E., Wamelink, M. M. C., Artuch, R., et al. (2024) · Journal of Inherited Metabolic Disease
Metabolism and Genetic DisordersMetabolomics and Mass Spectrometry Studies
Cited by 7
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