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Sialic Acid Storage Disease

"Sialic Acid Storage Disease" 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.

Autosomal recessive neurodegenerative disorders caused by lysosomal membrane transport defects that result in accumulation of free sialic acid (N-ACETYLNEURAMINIC ACID) within the lysosomes. The two main clinical phenotypes, which are allelic variants of the SLC17A5 gene, are ISSD, a severe infantile form, or Salla disease, a slowly progressive adult form, named for the geographic area in Finland where the kindred first studied resided.


This graph shows the total number of publications written about "Sialic Acid Storage Disease" by people in Harvard Catalyst Profiles by year, and whether "Sialic Acid Storage Disease" 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 2003 and 2009
To see the data from this visualization as text, click here.
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.