Frits A. Wijburg - Concepedia

Author

Frits A. Wijburg

Also Known As

F A Wijburg, F. A. Wijburg, F. Wijburg, F.A. Wijburg, FA Wijburg, Frits A Wijburg, Frits A. Wijburg, Frits Wijburg, Rust, Stewart, Wijburg

413

Publications

18.7K

Citations

H-Index

207

Concepts

All Affiliations

University of Amsterdam Amsterdam UMC Location University of Amsterdam Emma Kinderziekenhuis Radboud University Nijmegen University Medical Center Utrecht

About

Frits A. Wijburg is an author at University of Amsterdam specializing in medicine, pathology, and metabolism.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	40	79	5.9K
2	Health Sciences	14	15	702
3	Public Health	9	9	533
4	Natural Sciences	3	3	140
5	Education	1	1	10

Frits A. Wijburg

202

Publications

14.6K

Citations

H-Index

Page 1

	Year	Citations
Elevated globotriaosylsphingosine is a hallmark of Fabry disease Johannes M. F. G. Aerts, J.E.M. Groener, Sijmen Kuiper, Proceedings of the National Academy of Sciences Metabolic SyndromeFabry DiseaseLipid StorageAutoimmune DiseaseBiochemistry	2008	715
Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update Marc C. Patterson, Christian J. Hendriksz, Mark Walterfang, Molecular Genetics and Metabolism UrologyMedicineInherited Metabolic DiseaseDiagnosisPathology	2012	467
Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study Maarten Arends, Christoph Wanner, Derralynn Hughes, Journal of the American Society of Nephrology	2016	406
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document Marieke Biegstraaten, Reynir Arngrı́msson, Frédéric Barbey, Orphanet Journal of Rare Diseases	2015	335
Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene Hans R. Waterham, Frits A. Wijburg, Raoul C. M. Hennekam, The American Journal of Human Genetics Mendelian DisorderSmith-lemli-opitz Syndrome IsGenetic DisorderGeneticsInherited Metabolic Disease	1998	294
Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response Nick Dekker, Laura van Dussen, Carla E. M. Hollak, Blood	2011	285
Statin Treatment in Children With Familial Hypercholesterolemia Jessica Rodenburg, Maud N. Vissers, Albert Wiegman, Circulation	2007	278
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy Thomas Cullup, Ay Lin Kho, Carlo Dionisi‐Vici, Nature Genetics Cell AutophagyMendelian DisorderAutoimmune DiseaseGenetic DisorderGenetics	2012	272
Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor Alison M. Motley, Ewald H. Hettema, Eveline M. Hogenhout, Nature Genetics Rhizomelic Chondrodysplasia PunctataSignal TransductionDisease MechanismPeroxisomal ProteinMedicine	1997	272
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation Stefan Kölker, Ángeles García Cazorla, Vassili Valayannopoulos, Journal of Inherited Metabolic Disease	2015	242

Page 1