R. B. H. Schutgens
Vrije Universiteit Amsterdam(NL)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Peroxisome Proliferator-Activated Receptors, Mitochondrial Function and Pathology, Adipose Tissue and Metabolism, Gout, Hyperuricemia, Uric Acid
Most-Cited Works
- → Rhizomelic Chondrodysplasia Punctata: Another Peroxisomal Disorder(1985)162 cited
- → Direct demonstration that the deficient oxidation of very long chain fatty acids in X-linked adrenoleukodystrophy is due to an impaired ability of peroxisomes to activate very long chain fatty acids(1988)159 cited
- → Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase(2001)157 cited
- → X‐linked cardioskeletal myopathy and neutropenia (Barth syndrome): Respiratory‐chain abnormalities in cultured fibroblasts(1996)99 cited
- → Deficiency of plasmalogens in the cerebro-hepato-renal (Zellweger) syndrome(1984)88 cited
- → The cerebro-hepato-renal (Zellweger) syndrome. Impaired de novo biosynthesis of plasmalogens in cultured skin fibroblasts(1985)75 cited
- → Nonketotic hyperglycinemia: Analyses of glycine cleavage system in typical and atypical cases(1987)60 cited
- → Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria(1991)60 cited
- → X-Linked adrenoleukodystrophy: Defective peroxisomal oxidation of very long chain fatty acids but not of very long chain fatty acyl-CoA esters(1987)57 cited
- → Riboflavin‐responsive lipid‐storage myopathy and glutaric aciduria type II of early adult onset(1986)56 cited