Sanfilippo syndrome: A mini‐review
2008 · Journal of Inherited Metabolic Disease · 400 citations
https://doi.org/10.1007/s10545-008-0838-5
F
Frits A. Wijburg
Claim or correct this author profile
Claim this profile or suggest corrections to the name, affiliation, bio, photo, or paper titles. Approved changes appear as verified CitedEvidence overlays.
413
Papers
18.9K
Citations
73
h-index
234
i10-index
Frits A. Wijburg is an academic researcher from Emma Kinderziekenhuis. The author has contributed to research in topics: Lysosomal Storage Disorders Research & Metabolism and Genetic Disorders & Trypanosoma species research and implications. The author has an h-index of 73, co-authored 352 publications.
ORCID: 0000-0002-0950-1368Papers by this author
worksRecommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document
2015 · Orphanet Journal of Rare Diseases · 335 citations
https://doi.org/10.1186/s13023-015-0253-6
Brown‐Vialetto‐Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment
2010 · Journal of Inherited Metabolic Disease · 240 citations
https://doi.org/10.1007/s10545-010-9242-z
Treatment recommendations in long‐chain fatty acid oxidation defects: consensus from a workshop
2009 · Journal of Inherited Metabolic Disease · 222 citations
https://doi.org/10.1007/s10545-009-1126-8
A phase 1/2 study of intrathecal heparan-N-sulfatase in patients with mucopolysaccharidosis IIIA
2016 · Molecular Genetics and Metabolism · 124 citations
https://doi.org/10.1016/j.ymgme.2016.05.006
Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome)
2011 · Orphanet Journal of Rare Diseases · 111 citations
https://doi.org/10.1186/1750-1172-6-43
Research topics
topicsChat about Author
Papers
Chat
Click to start Chat