R. B. H. Schutgens - Concepedia

Author

R. B. H. Schutgens

Also Known As

R B H Schutgens, R B Schutgens, R. B. H (a) Schutzgens, R. B. H. Schutgens, R. Schutgens, R.B.H. Schutgens, Ruud B H Schutgens, Ruud B. H. Schutgens, Ruud B. Schutgens, Ruud B.H. Schutgens

153

Publications

Citations

H-Index

109

Concepts

All Affiliations

University of Amsterdam Utrecht University Wilhelmina Children's Hospital Amsterdam UMC Location University of Amsterdam Kennedy Krieger Institute

About

R. B. H. Schutgens is an author at University of Amsterdam specializing in medicine, biochemistry, and oxidative stress.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	36	67	3.9K
2	Health Sciences	12	13	1.1K
3	Natural Sciences	8	8	533
4	Public Health	3	3	86
5	Allergy	1	1	32

R. B. H. Schutgens

Publications

6.1K

Citations

H-Index

Page 1

	Year	Citations
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter Peter A. J. Leegwater, Gerre Vermeulen, Andrea A.M. Könst, Nature Genetics Translational BiologyDisease MechanismWhite MatterPathogenesisImmunology	2001	412
Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter Marjo S. van der Knaap, Peter A. J. Leegwater, Andrea A.M. Könst, Annals of Neurology	2001	380
Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome) H. S. A. Heymans, R. B. H. Schutgens, Raymond K. Tan, Nature Severe Plasmalogen DeficiencyPhysiologyHematologyPediatricsInherited Metabolic Disease	1983	348
Mutations of MLC1 (KIAA0027), Encoding a Putative Membrane Protein, Cause Megalencephalic Leukoencephalopathy with Subcortical Cysts Peter A. J. Leegwater, Bao Qiang Yuan, J. Van der Steen, The American Journal of Human Genetics Neurobiology Of DiseaseNeurological DisorderMedicinePathogenesisPutative Membrane Protein	2001	264
A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy). Bwee Tien Poll‐The, Frank Roels, H. Ogier, PubMed	1988	260
Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency. A. W. Schram, Sidney Goldfischer, C W van Roermund, Proceedings of the National Academy of Sciences Lipid PeroxidationFatty Liver DiseaseRedox BiologyA Thiolase DeficiencyOxidative Stress	1987	203
Activity of peroxisomal enzymes and intracellular distribution of catalase in Zellweger syndrome Ronald J. A. Wanders, Milan Kos, B.C. Roest, Biochemical and Biophysical Research Communications Peroxisomal EnzymesCellular EnzymologyBiochemistryPhysiologyBiochemical Genetics	1984	200
Deficiency of acyl-CoA: Dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome R. B. H. Schutgens, G.J. Romeyn, Ronald J. A. Wanders, Biochemical and Biophysical Research Communications HepatologyBiochemistryInherited Metabolic DiseaseIga GlomerulonephritisDihydroxyacetone Phosphate Acyltransferase	1984	193
Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis. Stanley Brul, A. Westerveld, Anneke Strijland, Journal of Clinical Investigation	1988	164
<scp>L</scp>‐2‐hydroxyglutaric acidemia: A novel inherited neurometabolic disease P. G. Barth, Georg F. Hoffmann, J. Jaeken, Annals of Neurology	1992	150

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