140 top medical experts on Sialic Acid Storage Disease across 14 countries and 7 U.S. states, including 5 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  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.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): Nervous System Lysosomal Storage Diseases (88).
  4. Clinical Trials ClinicalTrials.gov : at least 1 including 1 Completed
  5. Synonyms: Infantile Sialic Acid Storage Disease,  Salla Disease,  Finnish Type Sialic Acid Storage Disease,  Infantile Form Sialic Acid Storage Disease,  Sialuria,  Finnish Type Sialuria,  Infantile Form Sialuria


  

        

                    


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