Frits A. Wijburg
Emma Kinderziekenhuis(NL)Amsterdam University Medical Centers(NL)Amsterdam University Medical Centers(NL)University of Amsterdam(NL)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Metabolism and Genetic Disorders, Trypanosoma species research and implications, Mitochondrial Function and Pathology, Diet and metabolism studies
Most-Cited Works
- → Elevated globotriaosylsphingosine is a hallmark of Fabry disease(2008)718 cited
- → Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia(2014)703 cited
- → Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update(2012)474 cited
- → Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study(2016)414 cited
- → Sanfilippo syndrome: A mini‐review(2008)400 cited
- → Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document(2015)339 cited