Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

Zellweger Syndrome

"Zellweger Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.


This graph shows the total number of publications written about "Zellweger Syndrome" by people in Harvard Catalyst Profiles by year, and whether "Zellweger Syndrome" was a major or minor topic of these publication.
Bar chart showing 2 publications over 2 distinct years, with a maximum of 1 publications in 1991 and 2009
To see the data from this visualization as text, click here.
Related Networks
People
Explore
_
Similar Concepts
_
Top Journals 
_
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.