Jos P.N. Ruiter - Concepedia

Author

Jos P.N. Ruiter

Also Known As

Antoine H C van Kampen, J P N Ruiter, J P Ruiter, J. P. N. Ruiter, J. P.N. Ruiter, J. Pn Ruiter, J.P.N. Ruiter, Jos P N Ruiter, Jos P. N. RUITER, Jos P. N. Ruiter

122

Publications

5.3K

Citations

H-Index

109

Concepts

All Affiliations

University of Amsterdam Amsterdam UMC Location University of Amsterdam Emma Kinderziekenhuis University of Lisbon Wilhelmina Children's Hospital

About

Jos P.N. Ruiter is an author at University of Amsterdam specializing in medicine, metabolism, and biochemistry.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	36	50	3K
2	Natural Sciences	13	13	834
3	Health Sciences	9	9	624
4	Engineering	2	2	66
5	Education	1	1	92

Jos P.N. Ruiter

Publications

4.7K

Citations

H-Index

Page 1

	Year	Citations
The enzymology of mitochondrial fatty acid beta‐oxidation and its application to follow‐up analysis of positive neonatal screening results Ronald J. A. Wanders, Jos P.N. Ruiter, Lodewijk IJlst, Journal of Inherited Metabolic Disease	2010	205
Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene. Lodewijk IJlst, Jos P.N. Ruiter, J.M.N. Hoovers, Journal of Clinical Investigation Mutant ProteinGeneticsMolecular BiologyMolecular GeneticsGenomics	1996	163
Hepatic Carnitine Palmitoyltransferase I Deficiency Presenting as Maternal Illness in Pregnancy A. Micheil Innes, L.E. Seargeant, K. Balachandra, Pediatric Research HepatologyHepatitisGynecologyPregnancyPathology	2000	149
ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism Heidi Peters, Nicole E. Buck, Ronald J. A. Wanders, Brain Fatal Leigh DiseaseGeneticsMolecular BiologyPathologyMolecular Genetics	2014	136
Mitochondrial long chain fatty acid β-oxidation in man and mouse Malika Chegary, Heleen te Brinke, Jos P.N. Ruiter, Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids Metabolic SyndromeOxysterolBiochemistryMitochondrial FunctionMitochondrial Dynamic	2009	127
Monocarboxylate Transporter 1 Deficiency and Ketone Utilization Peter M. van Hasselt, Sacha Ferdinandusse, Glen R. Monroe, New England Journal of Medicine GeneticsPathologyMolecular GeneticsDisease Gene IdentificationCellular Physiology	2014	118
Progressive Infantile Neurodegeneration Caused by 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency: A Novel Inborn Error of Branched-Chain Fatty Acid and Isoleucine Metabolism Johannes Zschocke, Jos P.N. Ruiter, Jochen Brand, Pediatric Research Developmental AnomalyBranched-chain Fatty AcidProgressive Infantile NeurodegenerationPediatricsIsoleucine Metabolism	2000	115
Long-Chain Fatty Acid Oxidation during Early Human Development Nadia A. Oey, M. E. J. den Boer, Frits A. Wijburg, Pediatric Research Metabolic SyndromeDevelopmental BiologyOmega-3 Fatty AcidEarly Human DevelopmentPhysiology	2005	98
Substrate specificity of human carnitine acetyltransferase: Implications for fatty acid and branched-chain amino acid metabolism Sara Violante, Lodewijk IJlst, Jos P.N. Ruiter, Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease BiochemistrySubstrate SpecificityCatabolismHuman Carnitine AcetyltransferaseMetabolic Regulation	2013	98
Measurement of peroxisomal fatty acid β‐oxidation in cultured human skin fibroblasts Ronald J. A. Wanders, Simone Denis, Jos P.N. Ruiter, Journal of Inherited Metabolic Disease	1995	98

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