J. Jaeken - Concepedia

Author

J. Jaeken

KU Leuven

Also Known As

J Jaeken, J. JAEKEN, J. Jaeken, Jaak Jaeken

122

Publications

3.9K

Citations

H-Index

Concepts

All Affiliations

KU Leuven Universitair Ziekenhuis Leuven University of Catania Radboud University Nijmegen University of Zurich

About

J. Jaeken is an author at KU Leuven specializing in medicine, pathology, and inherited metabolic disease.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	17	20	1.2K
2	Natural Sciences	3	3	186
3	Health Sciences	2	2	101
4	Engineering	1	1	98
5	Public Health	1	1	18

J. Jaeken

Publications

3.1K

Citations

H-Index

Page 1

	Year	Citations
Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome?: 90 J. Jaeken, M Vanderschueren‐Lodeweyckx, Paul Casaer, Pediatric Research Csf ProteinMendelian DisorderAutoimmune DiseaseGenetic DisorderSerum Prolactin	1980	278
Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome J. Jaeken, H.G. van Eijk, C. Van Der Heul, Clinica Chimica Acta Mendelian DisorderGenetic DisorderCerebrospinal FluidInherited Metabolic DiseaseGenetic Epidemiology	1984	273
The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement. J. Jaeken, Helena Stibler, Bengt Hagberg PubMed Neurological DisorderMedicineInherited Metabolic DiseaseGlycobiologyPathology	1991	156
<scp>L</scp>‐2‐hydroxyglutaric acidemia: A novel inherited neurometabolic disease P. G. Barth, Georg F. Hoffmann, J. Jaeken, Annals of Neurology	1992	150
Xeroderma pigmentosum complementation group G associated with Cockayne syndrome. Wim Vermeulen, J. Jaeken, N.G.J. Jaspers, PubMed	1993	104
A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide. Patricie Burda, Lubor Borsig, J de Rijk-van Andel, Journal of Clinical Investigation GlycoproteomicsProtein GlycosylationBiosynthesisEngineeringProtein Glycosylation Process	1998	98
<scp>l</scp>‐2‐Hydroxyglutaric acidaemia: Clinical and biochemical findings in 12 patients and preliminary report on<scp>l</scp>‐2‐hydroxyacid dehydrogenase P. G. Barth, Georg F. Hoffmann, J. Jaeken, Journal of Inherited Metabolic Disease	1993	96
Gamma-Aminobutyric Acid-Transaminase Deficiency: A Newly Recognized Inborn Error of Neurotransmitter Metabolism J. Jaeken, Paul Casaer, Paul De Cock, Neuropediatrics	1984	90
Congenital microcephaly and seizures due to 3‐phosphoglycerate dehydrogenase deficiency: Outcome of treatment with amino acids Tom J. de Koning, M. Durán, Lionel Van Maldergem, Journal of Inherited Metabolic Disease	2002	84
Hypomyelination and Reversible White Matter Attenuation in 3-Phosphoglycerate Dehydrogenase Deficiency Tom J. de Koning, J. Jaeken, M. Pineda, Neuropediatrics	2000	78

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