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Frits A. Wijburg

Emma Kinderziekenhuis

ORCID: 0000-0002-0950-1368

Publishes on Lysosomal Storage Disorders Research, Metabolism and Genetic Disorders, Mitochondrial Function and Pathology. 413 papers and 19.1k citations.

PubIndex Score98Top 2%How it's scored

413Publications

19.1kTotal Citations

First publication: 1985First senior author: 1986

Lysosomal Storage Disorders Research Metabolism and Genetic Disorders Mitochondrial Function and Pathology Glycogen Storage Diseases and Myoclonus Trypanosoma species research and implications

Top publicationsby citations

Elevated globotriaosylsphingosine is a hallmark of Fabry disease

Johannes M. F. G. Aerts, Ben J. H. M. Poorthuis, J.E.M. Groener et al.|Proceedings of the National Academy of Sciences|2008

Cited by 725

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

Matthias R. Baumgartner, Anupam Chakrapani, Friederike Hörster et al.|Orphanet Journal of Rare Diseases|2014

Cited by 713

Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update

Marc C. Patterson, Frits A. Wijburg, Christian J. Hendriksz et al.|Molecular Genetics and Metabolism|2012

Cited by 478

Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study

Maarten Arends, Carla E. M. Hollak, Marieke Biegstraaten et al.|Journal of the American Society of Nephrology|2016

Cited by 421

Sanfilippo syndrome: A mini‐review

M. J. Valstar, Frits A. Wijburg, George J. G. Ruijter et al.|Journal of Inherited Metabolic Disease|2008

Cited by 401