J. L. M. Keulemans - Concepedia

Concepedia

Author

J. L. M. Keulemans

Erasmus University Rotterdam

Also Known As

J Keulemans, J L Keulemans, J L M Keulemans, J. Keulemans, J. L. M. KEULEMANS, J. L. M. Keulemans, J.L.M. Keulemans, Joke Keulemans, Joke L. M. Keulemans, Joke L.M. Keulemans

33

Publications

1.8K

Citations

21

H-Index

63

Concepts

All Affiliations

Erasmus University Rotterdam Erasmus MC State Research Institute of Organic Chemistry and Technology Leiden University Leiden University Medical Center

JL

About

J. L. M. Keulemans is an author at Erasmus University Rotterdam specializing in medicine, pathology, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	15	18	991
2	Cell Biology	5	5	119
3	Cellular Physiology	4	4	85
4	Biochemistry	1	1	34
5	Cell Systems	1	1	15

J. L. M. Keulemans

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29

Publications

1.8K

Citations

21

H-Index

	Year	Citations
Characterization and localization of the FMR-1 gene product associated with fragile X syndrome Coleta Verheij, Cathy Bakker, Esther de Graaff, Nature Fragile X SyndromeMendelian DisorderFmr-1 Gene ProductGenetic DisorderGenetics	1993	340
A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease) Ya. V. Voznyi, J. L. M. Keulemans, O. P. van Diggelen Journal of Inherited Metabolic Disease	2001	189
Broad spectrum of Pompe disease in patients with the same c.-32-13T→G haplotype Marian A. Kroos, Robert J. Pomponio, M.L.C. Hagemans, Neurology	2007	168
A fluorimetric enzyme assay for the diagnosis of sanfilippo disease type A (MPS IIIA) Ya. V. Voznyi, J. L. M. Keulemans, A.T. Hoogeveen, Journal of Inherited Metabolic Disease	1995	119
Adult neuronal ceroid lipofuscinosis with palmitoyl‐protein thioesterase deficiency: First adult‐onset patients of a childhood disease Otto P. van Diggelen, Stéphane Thobois, Caroline Tilikete, Annals of Neurology	2001	117
A Rapid Fluorogenic Palmitoyl-Protein Thioesterase Assay: Pre- and Postnatal Diagnosis of INCL O. P. van Diggelen, J. L. M. Keulemans, Bryan Winchester, Molecular Genetics and Metabolism Molecular Diagnostic TechniquesPostnatal DiagnosisMedicinePathologyMolecular Biology	1999	116
A new diagnostic assay for glycogen storage disease type II in mixed leukocytes Toshika Okumiya, J. L. M. Keulemans, Marian A. Kroos, Molecular Genetics and Metabolism Laboratory HematologyGranulocyteMedicineBioanalysisImmunology	2005	78
A new fluorimetric enzyme assay for the diagnosis of Niemann–Pick A/B, with specificity of natural sphingomyelinase substrate O. P. van Diggelen, Ya. V. Voznyi, J. L. M. Keulemans, Journal of Inherited Metabolic Disease	2005	76
Residual α-l-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients Esmée Oussoren, J. L. M. Keulemans, Otto P. van Diggelen, Molecular Genetics and Metabolism Mucopolysaccharidosis TypePathologyResidual α-L-iduronidase ActivityNeurologyNeuropathology	2013	49
The influence of various cell kinetic conditions on functional differentiation in the small intestine of the rat N. J. de Both, J.M. van Dongen, B. van Hofwegen, Developmental Biology Animal PhysiologyGastrointestinal Peptide HormoneDevelopmental BiologySmall IntestinePhysiology	1974	47

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