Johannis B.C. de Klerk

Author

Erasmus University Rotterdam

Also Known As

Johannis B C de Klerk, Johannis B. C. De Klerk, Johannis B. C. de Klerk, Johannis B.C. de Klerk

Publications

1.2K

Citations

H-Index

Concepts

All Affiliations

Erasmus University Rotterdam Radboud University Nijmegen Wilhelmina Children's Hospital Erasmus MC - Sophia Children’s Hospital Radboud University Medical Center

About

Johannis B.C. de Klerk is an author at Erasmus University Rotterdam specializing in medicine, inherited metabolic disease, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	6	6	303
2	Health Sciences	2	2	135
3	Cell Biology	2	2	88
4	Biochemistry	1	1	46
5	Diabetes	1	1	89

Johannis B.C. de Klerk

Publications

650

Citations

H-Index

Page 1

	Year	Citations
Peroxisomal <scp>d</scp> -hydroxyacyl-CoA dehydrogenase deficiency: Resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency E.G. van Grunsven, E. van Berkel, Lodewijk IJlst, Proceedings of the National Academy of Sciences	1998	149
Peroxisome biogenesis disorders with prolonged survival: Phenotypic expression in a cohort of 31 patients Bwee Tien Poll‐The, Jeannette Gootjes, Marinus Durán, American Journal of Medical Genetics Part A	2004	91
Mutations in PCBD1 Cause Hypomagnesemia and Renal Magnesium Wasting Silvia Ferrè, Jeroen H. F. de Baaij, Patrick Ferreira, Journal of the American Society of Nephrology Electrolyte DisorderGeneticsPcbd1 GeneDisease Gene IdentificationInsulin Signaling	2013	89
Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic Timo Imbach, Stephanie Grünewald, Barbara Schenk, Human Genetics Mendelian DisorderAutoimmune DiseaseGenetic DisorderInherited Metabolic DiseaseGlycobiology	2000	66
Glutaric aciduria type I: ultrasonographic demonstration of early signs Rosemarie Forstner, Georg F. Hoffmann, Ingemar Gassner, Pediatric Radiology Urogenital RadiologyGlutaric Aciduria TypeMedicineDiagnosisLaboratory Medicine	1999	57
Octanoic acidemia and octanoylcarnitine excretion with dicarboxylic aciduria due to defective oxidation of medium-chain fatty acids Marinus Durán, Grant Mitchell, Johannis B.C. de Klerk, The Journal of Pediatrics Medium-chain Fatty AcidsOctanoic AcidemiaBiochemistryOctanoylcarnitine ExcretionOmega-3 Fatty Acid	1985	46
Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the <i>MOCS3</i> gene J. G. M. Huijmans, Rachel Schot, Johannis B.C. de Klerk, American Journal of Medical Genetics Part A	2017	37
Functional Hyperactivity of Hepatic Glutamate Dehydrogenase as a Cause of the Hyperinsulinism/Hyperammonemia Syndrome: Effect of Treatment J. G. M. Huijmans, Marinus Durán, Johannis B.C. de Klerk, PEDIATRICS	2000	35
Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study C. M. L. Touw, Gerrit Smit, Maaike de Vries, Orphanet Journal of Rare Diseases	2012	35
Autosomal Recessive Phosphorylase Kinase Deficiency in Liver, Caused by Mutations in the Gene Encoding the β Subunit (PHKB) Inge E.T. van den Berg, Ellen A.C.M. van Beurden, Johannis B.C. de Klerk, The American Journal of Human Genetics HepatologyGenetic DisorderGeneticsInherited Metabolic DiseaseLiver Physiology	1997	23

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