Harvard Catalyst Profiles

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

Refsum Disease, Infantile

"Refsum Disease, Infantile" 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.

MeSH information
Definition  |  Details  |  More General Concepts  |  Related Concepts  |  More Specific Concepts
An early onset form of phytanic acid storage disease with clinical and biochemical signs different from those of REFSUM DISEASE. Features include MENTAL RETARDATION; SENSORINEURAL HEARING LOSS; OSTEOPOROSIS; and severe liver damage. It can be caused by mutation in a number of genes encoding proteins involving in the biogenesis or assembly of PEROXISOMES.


publications
Timeline   |   Most Recent
This graph shows the total number of publications written about "Refsum Disease, Infantile" by people in Harvard Catalyst Profiles by year, and whether "Refsum Disease, Infantile" was a major or minor topic of these publication.
To see the data from this visualization as text,
Related Networks
_
Top Journals 
_
© 2024 President and Fellows of Harvard College
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.