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Results 1 - 6 of 6 for Salla disease
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  1. Sialic acid storage disease 
    ... three forms: infantile free sialic acid storage disease, Salla disease, and intermediate severe Salla disease.Infantile free sialic acid storage disease (ISSD) is ...
    https://medlineplus.gov/.../condition/sialic-acid-storage-disease - Genetics
  2. SLC17A5 gene 
    ... least severe form of this disorder known as Salla disease. This mutation replaces the protein building block (amino ... acid storage disease. Individuals diagnosed with intermediate severe Salla disease have one copy of the SLC17A5 gene with ...
    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