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Free sialic acid storage disease

Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
  • E77.8
  • C2931872
  • C538523
  • 10067529
  • 10067531


Disease definition

Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD).

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Detailed information

Review article
Clinical practice guidelines
Article for general public
Clinical genetics review
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