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Results 1 - 6 of 6 for Salla disease
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  1. Free sialic acid storage disorder 
    ... the least severe form of FSASD, also called Salla disease, may not have the signs and symptoms of ... which people develop the signs and symptoms of Salla disease can vary, but hypotonia usually appears during the ...
    https://medlineplus.gov/.../free-sialic-acid-storage-disorder - Genetics
  2. SLC17A5 gene 
    ... with the least severe form of FSASD (called Salla disease) typically have this variant in both copies of ... who have one SLC17A5 gene with the Finnish Salla disease variant and one SLC17A5 gene with a variant ...
    https://medlineplus.gov/genetics/gene/slc17a5 - Genetics
  3. Where can I read more about the diseases and traits covered in my direct-to-consumer genetic testing report?: ... 
    ... Rhizomelic chondrodysplasia punctata Sialic acid storage disease , including Salla disease Sickle cell disease , also called sickle cell anemia ...
    https://medlineplus.gov/.../dtcgenetictesting/dtcghrpages - Genetics
  4. Genetic Brain Disorders (National Library of Medicine)  
    A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. ...
    https://medlineplus.gov/geneticbraindisorders.html - Health Topics
  5. Metabolic Disorders (National Library of Medicine)  
    Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
    https://medlineplus.gov/metabolicdisorders.html - Health Topics
  6. Sialuria 
    ... or Free article on PubMed Central Strehle EM. Sialic acid storage disease and related disorders. Genet Test. 2003 Summer;7( ...
    https://medlineplus.gov/genetics/condition/sialuria - Genetics