Definitions for sialic acid storage disease
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U.S. National Library of Medicine
Sialic Acid Storage Disease
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.
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"sialic acid storage disease." Definitions.net. STANDS4 LLC, 2015. Web. 25 Nov. 2015. <http://www.definitions.net/definition/sialic acid storage disease>.