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Ruud B. H. Schutgens

Observed names: R B H Schutgens, R B Schutgens, R H Schutgens, R SCHUTGENS, R. B. H. SCHUTGENS, R. B. H. Schutgens, R. B. SCHUTGENS, R. B. Schutgens, R. H. B. Schutgens, R. SCHUTGENS, R. Schutgens, R.B.H. SCHUTGENS, R.B.H. Schutgens, RB Schutgens, RBH Schutgens, Rdbh Schutgens, Ruud B H Schutgens, Ruud B. J. Schutgens, Ruud B. Schutgens, Ruud B.H. Schutgens, Ruud BH Schutgens, Ruud H. Schutgens, Ruud Schutgens, RuudB.H. Schutgens, SCHUTGENS, R, Schutgens Rbh, Schutgens Ruud B.H., Schutgens, R. B., Schutgens, RBH.
Observed institutions: Royal Children's Hospital, University of Groningen, University of California, San Francisco, Utrecht University, Tohoku University, Heidelberg University, Amsterdam UMC Location University of Amsterdam, Yale University, University of California San Diego, Emma Kinderziekenhuis, Royal Hospital for Sick Children, Hospital de Cruces, Tokyo Metropolitan Children's Medical Center, Amsterdam University Medical Centers, Wilhelmina Children's Hospital, Gifu University, Vrije Universiteit Amsterdam, University of Amsterdam, Amsterdam UMC Location Vrije Universiteit Amsterdam, Erasmus University Rotterdam
OpenAlex ID: A5111455865
Biochemistry of Peroxisomes
1992 · H. van den Bosch, R. B. H. Schutgens, et al. · Annual Review of Biochemistry · 843
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter
2001 · Peter A.J. Leegwater, Gerre Vermeulen, et al. · Nature Genetics · 411
Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter
2001 · Marjo S. van der Knaap, Peter A. J. Leegwater, et al. · Annals of Neurology · 376
Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome)
1983 · Hugo S. A. Heymans, Ruud B. H. Schutgens, et al. · Nature · 351
Peroxisomal disorders: A newly recognised group of genetic diseases
1986 · R. B. H. Schutgens, H. S. A. Heymans, et al. · European Journal of Pediatrics · 310
Mutations of MLC1 (KIAA0027), Encoding a Putative Membrane Protein, Cause Megalencephalic Leukoencephalopathy with Subcortical Cysts
2001 · Peter A.J. Leegwater, Bao Qiang Yuan, et al. · The American Journal of Human Genetics · 270
A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy).
1988 · B T Poll-The, F Roels, et al. · Europe PMC (PubMed Central) · 258
Impaired Ability of Peroxisomes to Activate Very-long-chain Fatty Acids in X-linked Adrenoleukodystrophy
1988 · R.J.A. Wanders, C.W.T.Van Roermund, et al. · The Lancet · 223
Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency.
1987 · A W Schram, S Goldfischer, et al. · Proceedings of the National Academy of Sciences · 201
Activity of peroxisomal enzymes and intracellular distribution of catalase in Zellweger syndrome
1984 · R.J.A. Wanders, M. Kos, et al. · Biochemical and Biophysical Research Communications · 199
Deficiency of acyl-CoA: Dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome
1984 · R.B.H. Schutgens, G.J. Romeyn, et al. · Biochemical and Biophysical Research Communications · 193
Peroxisomal disorders in neurology
1988 · R.J.A. Wanders, H.S.A. Heymans, et al. · Journal of the Neurological Sciences · 176
Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis.
1988 · S Brul, A Westerveld, et al. · Journal of Clinical Investigation · 162
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Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase
2001 · Boris M. Hogema, Maneesh Gupta, et al. · Nature Genetics · 157
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 · R.J.A. Wanders, C.W.T. van Roermund, et al. · Biochemical and Biophysical Research Communications · 157
L ‐2‐hydroxyglutaric acidemia: A novel inherited neurometabolic disease
1992 · Peter G. Barth, Georg F. Hoffmann, et al. · Annals of Neurology · 151
Infantile Refsum disease: an inherited peroxisomal disorder
1987 · B. T. Poll-The, J. M. Saudubray, et al. · European Journal of Pediatrics · 132
Human dihydroxyacetonephosphate acyltransferase deficiency: A new peroxisomal disorder
1992 · R. J. A. Wanders, H. Schumacher, et al. · Journal of Inherited Metabolic Disease · 131
Peroxisomal β-oxidation enzyme proteins in the Zellweger syndrome
1985 · Joseph M. Tager, Willem A. Ten Harmsen Van Der Beek, et al. · Biochemical and Biophysical Research Communications · 128
Peroxisomal Disorders: A Review
1995 · Ronald J. A. Wanders, Ruud B. H. Schutgens, et al. · Journal of Neuropathology & Experimental Neurology · 125
Human alkyldihydroxyacetonephosphate synthase deficiency: A new peroxisomal disorder
1994 · R. J. A. Wanders, C. Dekker, et al. · Journal of Inherited Metabolic Disease · 120
Biosynthesis and maturation of peroxisomal beta-oxidation enzymes in fibroblasts in relation to the Zellweger syndrome and infantile Refsum disease.
1986 · A W Schram, A Strijland, et al. · Proceedings of the National Academy of Sciences · 106
Plasma Placenta Growth Factor Levels in Midtrimester Pregnancies
2001 · May Lee Tjoa, John M. G. van Vugt, et al. · Obstetrics and Gynecology · 105
X‐linked cardioskeletal myopathy and neutropenia (Barth syndrome): Respiratory‐chain abnormalities in cultured fibroblasts
1996 · P. G. Barth, C. Van den Bogert, et al. · Journal of Inherited Metabolic Disease · 101
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Glutaryl-Coenzyme A Dehydrogenase Deficiency: A Distinct Encephalopathy
1991 · Georg F. Hoffmann, Friedrich K. Trefz, et al. · PEDIATRICS · 99
Works count: 286
Citation count: 11,250
H-index: 55
I10-index: 180
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