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 Definitions of sialic acid storage disease  

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Definition of 'sialic acid storage disease' U.S. National Library of Medicine 

1.  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.

'sialic acid storage disease' - Nearby Entries  

shwartzman phenomenon  shy-drager syndrome  siadenovirus  sialic acid storage disease  sialic acids  sialoglycoproteins  sialography  



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