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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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We couldn't find any anagrams for the word sialic acid storage disease.

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sialagogue, sialagoguic, sialemesis, sialia, sialic, sialid, sialidae, sialidan, sialis, sialoangitis

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