R. B. H. Schutgens

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

R. J. A. Wanders, Carlo W.T. van Roermund, M.J.A. van Wijland et al. · Biochemical and Biophysical Research Communications · 1988 · 159 citations

Life Sciences, Biochemistry, Molecular Genetics +17

Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase

Boris M. Hogema, Maneesh Gupta, Henry Senephansiri et al. · Nature Genetics · 2001 · 158 citations

Medicine, Neuroscience, Pharmacology +13

X‐linked cardioskeletal myopathy and neutropenia (Barth syndrome): Respiratory‐chain abnormalities in cultured fibroblasts

P. G. Barth, Coby Van den Bogert, Pieter A. Bolhuis et al. · Journal of Inherited Metabolic Disease · 1996 · 99 citations · Full text

Medicine, Pathobiology, Pathology +10

Deficiency of plasmalogens in the cerebro-hepato-renal (Zellweger) syndrome

H. S. A. Heymans, H. van den Bosch, R. B. H. Schutgens et al. · European Journal of Pediatrics · 1984 · 89 citations

Medicine, Pathobiology, Pathology +4

The cerebro-hepato-renal (Zellweger) syndrome. Impaired de novo biosynthesis of plasmalogens in cultured skin fibroblasts

G. Schrakamp, R. B. H. Schutgens, Ronald J. A. Wanders et al. · Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism · 1985 · 75 citations

Life Sciences, Cell Biology, Hepatology +4